Home All Cancer Mutant Clones BRAF Mutants

Description of the mutations of BRAF (NM_004333) 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

SKU	Mutation Description	Affected Codon#	Affected NT#	Description	Effect	Affected Protein Domain
RC400154	V600A	600	c.1799	T>C	missense	kinase
RC400155	V600E	600	c.1799	T>A	missense	kinase
RC400156	V600G	600	c.1799	T>G	missense	kinase
RC400157	V600M	600	c.1798	G>A	missense	kinase
RC400158	V600D	600	c.1799_1800	TG>AT	missense	kinase
RC400159	V600R	600	c.1798_1799	GT>AG	missense	kinase
RC400160	V600K	600	c.1798_1799	GT>AA	missense	kinase
RC400321	L597Q	597	c.1790	T>A	Missense
RC400322	L597V	597	c.1789	C>G	Missense
RC400323	G469E	469	c.1406	G>A	Missense
RC400324	G469A	469	c.1406	G>C	Missense
RC400325	K601E	601	c.1801	A>G	Missense
RC400326	G466V	466	c.1397	G>T	Missense
RC400327	Y472S	472	c.1415	A>C	Missense
RC400328	G464V	464	c.1391	G>T	Missense
RC402700	T241P	241	721	A>C	Costello syndrome
RC402701	T244P	244	730	A>C	Cardio-facio-cutaneous syndrome
RC402702	A246P	246	736	G>C	Cardio-facio-cutaneous syndrome
RC402703	Q257R	257	770	A>G	Cardio-facio-cutaneous syndrome
RC402704	Q257K	257	769	C>A	Cardio-facio-cutaneous syndrome
RC402705	Q262R	262	785	A>G	Cardio-facio-cutaneous syndrome
RC402706	Q262K	262	784	C>A	Cardio-facio-cutaneous syndrome
RC402707	G464R	464	1390	G>C	Cardio-facio-cutaneous syndrome
RC402708	S467A	467	1399	T>G	Cardio-facio-cutaneous syndrome
RC402709	F468S	468	1403	T>C	Cardio-facio-cutaneous syndrome
RC402710	L485F	485	1455	G>C	Cardio-facio-cutaneous syndrome
RC402711	L485S	485	1454	T>C	Cardio-facio-cutaneous syndrome
RC402712	v487G	487	1460	T>G	Cardio-facio-cutaneous syndrome
RC402713	K499N	499	1497	A>C	Cardio-facio-cutaneous syndrome
RC402714	K499E	499	1495	A>G	Cardio-facio-cutaneous syndrome
RC402715	E501G	501	1502	A>G	Cardio-facio-cutaneous syndrome
RC402716	E501v	501	1502	A>T	Cardio-facio-cutaneous syndrome
RC402717	E501K	501	1501	G>A	Cardio-facio-cutaneous syndrome
RC402718	L525P	525	1574	T>C	Cardio-facio-cutaneous syndrome
RC402719	G534R	534	1600	G>C	Cardio-facio-cutaneous syndrome
RC402720	D565E	565	1695	T>G	Cardio-facio-cutaneous syndrome
RC402721	N580D	580	1738	A>G	Cardio-facio-cutaneous syndrome
RC402722	N581D	581	1741	A>G	Cardio-facio-cutaneous syndrome
RC402723	F595L	595	1785	T>G	Cardio-facio-cutaneous syndrome
RC402724	F595L	595	1785	T>A	Cardio-facio-cutaneous syndrome
RC402725	G596v	596	1787	G>T	Cardio-facio-cutaneous syndrome
RC402726	T599R	599	1796	C>G	Cardio-facio-cutaneous syndrome
RC402727	D638E	638	1914	T>A	Cardio-facio-cutaneous syndrome

Over 1000 citations of OriGene cDNA clones

Description of the mutations of BRAF (NM_004333) Mutants