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

3 papers

NM_004333.6

p.P632S

c.1894C>T

Surrounding Variants

1 paper

NM_004333.6

p.P632A

c.1894C>G

4 papers

NM_004333.6

p.Y633H

c.1897T>C

6 papers

NM_004333.6

p.Y633C

c.1898A>G

1 paper

NM_004333.6

p.K630I

c.1889A>T

1 paper

NM_004333.6

p.S634I

c.1901G>T

1 paper

NM_004333.6

p.S634R

c.1902C>A

3 papers

NM_004333.6

p.F635I

c.1903T>A

1 paper

NM_004333.6

p.D629Y

c.1885G>T

1 paper

NM_004333.6

p.D629H

c.1885G>C

1 paper

NM_004333.6

p.Q628P

c.1883A>C

1 paper

NM_004333.6

p.Q628delFs

c.1882delG

7 papers

NM_004333.6

p.Q636*

c.1906C>T