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.L441I

c.1321C>A

Surrounding Variants

2 papers

NM_004333.6

p.L441V

c.1321C>G

1 paper

NM_004333.6

p.L441H

c.1322T>A

1 paper

NM_004333.6

p.T440insFs

c.1319dupC

1 paper

NM_004333.6

p.L441L

c.1323T>G

7 papers

NM_004333.6

p.T440I

c.1319C>T

1 paper

NM_004333.6

p.T440R

c.1319C>G

1 paper

NM_004333.6

p.G442C

c.1324G>T

5 papers

NM_004333.6

p.G442S

c.1324G>A

1 paper

NM_004333.6

p.T440A

c.1318A>G

6 papers

NM_004333.6

p.T440P

c.1318A>C

5 papers

NM_004333.6

p.G442D

c.1325G>A

1 paper

NM_001378473.1

p.G390G

c.1170T>A