Varaico: Literature-Extracted Genetic Variants

BRAF

18,221 papers

RefSeq Summary

This gene encodes a protein belonging to the RAF family of serine/threonine protein kinases. This protein plays a role in regulating the MAP kinase/ERK signaling pathway, which affects cell division, ...

Pfam Domains

RBDaa 156–227UCSCRaf-like Ras-binding domain

C1_1aa 235–282UCSCPhorbol esters/diacylglycerol binding domain (C1 domain)

PK_Tyr_Ser-Thraa 497–754UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

B-Raf proto-oncogene, serine/threonine kinase

HGNC Alias Symbols

BRAF1; BRAF-1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004333.6

p.S76_L79delFs

c.227_236del10

Surrounding Variants

1 paper

NM_004333.6

p.L79L

c.237G>T

2 papers

NM_004333.6

p.L79P

c.236T>C

1 paper

NM_004333.6

p.L79Q

c.236T>A

1 paper

NM_004333.6

p.E80Q

c.238G>C

1 paper

NM_004333.6

p.Y78insFs

c.234dupT

2 papers

NM_004333.6

p.L79M

c.235C>A

2 papers

NM_004333.6

p.E80G

c.239A>G

2 papers

NM_004333.6

p.E80D

c.240G>T

2 papers

NM_004333.6

p.E80D

c.240G>C

1 paper

NM_004333.6

p.P75_E80insFs

c.224_240dup17

1 paper

NM_004333.6

p.E80_A81Splc

c.240+1G>A

1 paper

NM_004333.6

p.I77_E80del4

c.229_239del12