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

42 papers

NM_004333.6

p.T241M

c.722C>T

Surrounding Variants

16 papers

NM_004333.6

p.T241R

c.722C>G

2 papers

NM_004333.6

p.T241K

c.722C>A

1 paper

NM_004333.6

p.T241T

c.723G>T

2 papers

NM_004333.6

p.T241T

c.723G>A

35 papers

NM_004333.6

p.T241P

c.721A>C

1 paper

NM_004333.6

p.K240K

c.720A>G

2 papers

NM_004333.6

p.K240R

c.719A>G

1 paper

NM_004333.6

p.K240Q

c.718A>C

1 paper

NM_004333.6

p.F243ins2

c.727_728ins6

1 paper

NM_004333.6

p.F243_T244insC

c.727_731ins3

1 paper

NM_004333.6

p.F243S

c.728T>C

7 papers

NM_004333.6

p.R239Q

c.716G>A