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.V590fs

c.1768_1769fs

Surrounding Variants

2 papers

NM_004333.6

p.V590V

c.1770A>G

1 paper

NM_001378473.1

p.V538insFs

c.1613_1614insT

1 paper

NM_004333.6

p.V590delFs

c.1769delA

3 papers

NM_004333.6

p.V590G

c.1769T>G

2 papers

NM_004333.6

p.V590A

c.1769T>C

4 papers

NM_004333.6

p.K591E

c.1771A>G

1 paper

NM_004333.6

p.K591Q

c.1771A>C

2 papers

NM_004333.6

p.V590L

c.1768G>T

2 papers

NM_004333.6

p.V590L

c.1768G>C

12 papers

NM_004333.6

p.V590I

c.1768G>A

2 papers

NM_004333.6

p.K591R

c.1772A>G

1 paper

NM_004333.6

p.K591K

c.1773A>G