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HomeAll Cancer Mutant ClonesRET Mutants

Description of the mutations of RET (NM_020975) Mutants

Keys for Mutation Description

A.A. substitution
Truncation
NT deletion
NT insertion
R280G: Arg at aa-position 280 mutated to Gly
R342X: R at aa-position 342 mutated to a stop codon and caused truncation of the protein
N268_D2: The deletion starts at nt#268. Two bases (including nt268) are deleted
N478-I6: The insertion starts after nt#478. Six bases are inserted

 

SKUMutation DescriptionAffected Codon#Affected NT#DescriptionEffect
RC400456 C618S618c.1853G>CMissense
RC400457 C618R618c.1852T>CMissense
RC400458 C634R634c.1900T>CMissense
RC400459 C634S634c.1901G>CMissense
RC400460 C634G634c.1900T>GMissense
RC400461 C634Y634c.1901G>AMissense
RC400462 C634W634c.1902C>GMissense
RC400463 M918T918c.2753T>CMissense
RC400464 C620F620c.1859G>TMissense
RC400465 C630R630c.1888T>CMissense
RC400466 A883F883c.2647_2648GC>TTMissense
RC400467 E632_L633del632c.1894_1899delGAGCTGdeletion
RC400468 E768D768c.2304G>CMissense
RC400469 A664D664c.1991C>AMissense
RC400470 E632_T636>SS632c.1894_1906GAGCTGTGCCGCA >AGCTdeletion
RC403218 P20L2059C>THirschsprung disease
RC403219 S32L3295C>THirschsprung disease
RC403220 L40P40119T>CHirschsprung disease
RC403221 L56M56166C>AHirschsprung disease
RC403222 P64L64191C>THirschsprung disease
RC403223 R67H67200G>AAutonomic control, congenital failure of ?
RC403224 R77C77229C>THirschsprung disease
RC403225 G93S93277G>AHirschsprung disease
RC403226 Y96C96287A>GHirschsprung disease
RC403227 S100I100299G>THirschsprung disease
RC403228 R114H114341G>AAutonomic control, congenital failure of
RC403229 E136X136406G>THirschsprung disease
RC403230 C142S142425G>CHirschsprung disease
RC403231 v145G145434T>GHirschsprung disease
RC403232 v145L145433G>CHirschsprung disease
RC403233 Y146N146436T>AHirschsprung disease
RC403234 C157Y157470G>AHirschsprung disease
RC403235 F174S174521T>CHirschsprung disease
RC403236 R180Q180539G>AHirschsprung disease
RC403237 R180P180539G>CHirschsprung disease
RC403238 R180X180538C>THirschsprung disease
RC403239 C197Y197590G>AHirschsprung disease
RC403240 v202M202604G>AHirschsprung disease
RC403241 R231H231692G>AHirschsprung disease
RC403242 E235K235703G>AHirschsprung disease
RC403243 E251K251751G>AHirschsprung disease
RC403244 v262A262785T>CHirschsprung disease
RC403245 D267N267799G>AHirschsprung disease
RC403246 T278N278833C>AHirschsprung disease
RC403247 v282L282844G>THirschsprung disease
RC403248 R287Q287860G>AHirschsprung disease
RC403249 R313Q313938G>AHirschsprung disease
RC403250 G321R321961G>AThyroid carcinoma, medullary
RC403251 W324C324972G>CHirschsprung disease
RC403252 R330Q330989G>AHirschsprung disease
RC403253 R330W330988C>THirschsprung disease
RC403254 v331M331991G>AHirschsprung disease
RC403255 T338I3381013C>THirschsprung disease
RC403256 R360W3601078C>THirschsprung disease
RC403257 S365X3651094C>AHirschsprung disease
RC403258 A373v3731118C>THirschsprung disease
RC403259 F393L3931179C>AHirschsprung disease
RC403260 N394K3941182C>GHirschsprung disease
RC403261 P399L3991196C>THirschsprung disease
RC403262 A432E4321295C>AAutonomic control, congenital failure of ?
RC403263 L452P4521355T>CHirschsprung disease
RC403264 D469N4691405G>AAganglionosis, total colonic
RC403265 R475Q4751424G>AHirschsprung disease
RC403266 R475W4751423C>THirschsprung disease
RC403267 E480K4801438G>AHirschsprung disease
RC403268 A487T4871459G>AHirschsprung disease
RC403269 D489G4891466A>GHirschsprung disease
RC403270 G533C5331597G>TThyroid cancer
RC403271 G533S5331597G>AHirschsprung disease
RC403272 C541X5411623T>AHirschsprung disease
RC403273 C558Y5581673G>AHirschsprung disease
RC403274 Q576P5761727A>CHirschsprung disease
RC403275 D584G5841751A>GHirschsprung disease
RC403276 C585Y5851754G>AMultiple endocrine neoplasia 2
RC403277 G588D5881763G>AAganglionosis, total colonic
RC403278 K603Q6031807A>CThyroid cancer
RC403279 Y606C6061817A>GThyroid carcinoma, medullary
RC403280 C609W6091827C>GHirschsprung disease
RC403281 C609S6091826G>CThyroid cancer
RC403282 C609F6091826G>TThyroid cancer
RC403283 C609Y6091826G>AThyroid cancer
RC403284 C609S6091825T>AHirschsprung disease
RC403285 C609R6091825T>CMultiple endocrine neoplasia 2A
RC403286 C609G6091825T>GMultiple endocrine neoplasia 2A
RC403287 C611W6111833C>GMultiple endocrine neoplasia 2A
RC403288 C611Y6111832G>AMultiple endocrine neoplasia 2A
RC403289 C611F6111832G>TMultiple endocrine neoplasia 2A
RC403290 C611S6111831T>AMultiple endocrine neoplasia 2A
RC403291 C611R6111831T>CMultiple endocrine neoplasia 2A
RC403292 C611G6111831T>GThyroid cancer
RC403293 C618X6181854C>AMultiple endocrine neoplasia 2
RC403294 C618Y6181853G>AThyroid carcinoma, medullary
RC403295 C618F6181853G>TMultiple endocrine neoplasia 2A
RC403296 C618G6181852T>GMultiple endocrine neoplasia 2A
RC403297 C620W6201860C>GThyroid cancer
RC403298 C620Y6201859G>AMultiple endocrine neoplasia 2A
RC403299 C620S6201859G>CThyroid cancer
RC403300 C620S6201858T>AThyroid cancer
RC403301 C620R6201858T>CThyroid cancer
RC403302 C620G6201858T>GMultiple endocrine neoplasia 2A
RC403303 Q626K6261876C>AHirschsprung disease
RC403304 C630Y6301889G>AThyroid cancer
RC403305 C630S6301889G>CThyroid cancer
RC403306 C630F6301889G>TMultiple endocrine neoplasia 2A
RC403307 D631Y6311891G>TMultiple endocrine neoplasia 2
RC403308 C634F6341901G>TMultiple endocrine neoplasia 2A
RC403309 R635G6351903C>GMultiple endocrine neoplasia 2A
RC403310 A640G6401919C>GMultiple endocrine neoplasia 2A
RC403311 A641S6411921G>TMultiple endocrine neoplasia 2A
RC403312 v648I6481942G>AMultiple endocrine neoplasia 2A
RC403313 S649L6491946C>TElevated basal serum calcitonin
RC403314 A654T6541960G>AHirschsprung disease
RC403315 K666E6661996A>GThyroid carcinoma, medullary
RC403316 S690P6902068T>CHirschsprung disease
RC403317 G691S6912071G>AHirschsprung disease, association with
RC403318 R694Q6942081G>AHirschsprung disease
RC403319 Q703X7032107C>TAganglionosis, total colonic
RC403320 T729A7292185A>GHirschsprung disease
RC403321 E734K7342200G>AAganglionosis, total colonic
RC403322 E762Q7622284G>CHirschsprung disease
RC403323 S765P7652293T>CHirschsprung disease
RC403324 S767R7672299A>CHirschsprung disease
RC403325 D771N7712311G>AHirschsprung disease
RC403326 N777S7772330A>GThyroid carcinoma, medullary
RC403327 v778I7782332G>AThyroid cancer
RC403328 K780X7802338A>THirschsprung disease
RC403329 K780E7802338A>GHirschsprung disease
RC403330 Q781R7812342A>GThyroid cancer
RC403331 L790F7902370G>CThyroid cancer
RC403332 L790F7902370G>TThyroid cancer
RC403333 Y791F7912372A>THirschsprung disease
RC403334 Y791N7912371T>AHirschsprung disease
RC403335 S795R7952385C>AHirschsprung disease
RC403336 v804L8042410G>CMultiple endocrine neoplasia 2
RC403337 v804L8042410G>TThyroid cancer
RC403338 v804M8042410G>AThyroid cancer
RC403339 R813Q8132438G>AHirschsprung disease
RC403340 E818K8182452G>AThyroid carcinoma, medullary
RC403341 S819I8192456G>TMultiple endocrine neoplasia 2
RC403342 P841L8412522C>THirschsprung disease
RC403343 E843D8432529G>TMultiple endocrine neoplasia 2
RC403344 R844L8442531G>TThyroid cancer
RC403345 R844Q8442531G>AThyroid carcinoma, medullary
RC403346 R844W8442530C>THirschsprung disease
RC403347 M848T8482543T>CMultifollicular thyroid carcinoma ?
RC403348 I852M8522556C>GThyroid Cancer
RC403349 R873Q8732618G>AHirschsprung disease
RC403350 R873P8732618G>CAganglionosis, total colonic
RC403351 A883T8832647G>AThyroid cancer
RC403352 E884D8842652G>CAganglionosis, total colonic
RC403353 R886W8862656C>TThyroid carcinoma, medullary
RC403354 S891A8912671T>GThyroid cancer
RC403355 F893L8932677T>CHirschsprung disease
RC403356 G894S8942680G>AHirschsprung disease
RC403357 R897Q8972690G>AHirschsprung disease
RC403358 R897X8972689C>TAganglionosis, total colonic
RC403359 S904C9042711C>GMultiple endocrine neoplasia 2B
RC403360 S904F9042711C>TMultifollicular thyroid carcinoma ?
RC403361 K907E9072719A>GHirschsprung disease
RC403362 R912Q9122735G>AHirschsprung disease
RC403363 R912P9122735G>CThyroid cancer
RC403364 E921X9212761G>THirschsprung disease
RC403365 E921K9212761G>AHirschsprung disease
RC403366 S922Y9222765C>AMultiple endocrine neoplasia 2B
RC403367 S922P9222764T>CThyroid cancer
RC403368 W942C9422826G>CAganglionosis, total colonic
RC403369 W942X9422825G>AHirschsprung disease
RC403370 F961L9612881T>CHirschsprung disease
RC403371 R969W9692905C>TAganglionosis, total colonic
RC403372 R972G9722914A>GHirschsprung disease
RC403373 P973L9732918C>THirschsprung disease
RC403374 M980T9802939T>CHirschsprung disease
RC403375 R982C9822944C>TAutonomic control, congenital failure of ?
RC403376 P1039Q10393116C>AHirschsprung disease
RC403377 P1039L10393116C>THirschsprung disease
RC403378 N1059S10593176A>GHirschsprung disease
RC403379 L1061P10613182T>CHirschsprung disease
RC403380 Y1062C10623185A>GHirschsprung disease
RC403381 M1064T10643191T>CHirschsprung disease

 

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