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

2 papers

NM_004333.6

p.E648G

c.1943A>G

Surrounding Variants

2 papers

NM_004333.6

p.E648Q

c.1942G>C

1 paper

NM_004333.6

p.E648fs

c.1942_1943fs

1 paper

NM_004333.6

p.E648_L649Fs

c.1944_1945delinsCFs

1 paper

NM_004333.6

p.L649W

c.1946T>G

1 paper

NM_004333.6

p.Y647D

c.1939T>G

1 paper

NM_004333.6

p.M650V

c.1948A>G

1 paper

NM_004333.6

p.M650I

c.1950G>T

1 paper

NM_004333.6

p.M650I

c.1950G>C

1 paper

NM_004333.6

p.M650I

c.1950G>A

1 paper

NM_004333.6

p.L646M

c.1936C>A

1 paper

NM_004333.6

p.T651N

c.1952C>A

1 paper

NM_004333.6

p.T651_G652insFs

c.1953_1954insA