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.L588H

c.1763T>A

Surrounding Variants

1 paper

NM_001378473.1

p.L536insFs

c.1607_1608insA

2 papers

NM_004333.6

p.L588R

c.1763T>G

6 papers

NM_004333.6

p.L588P

c.1763T>C

8 papers

NM_004333.6

p.L588F

c.1762C>T

1 paper

NM_004333.6

p.L588L

c.1764C>T

3 papers

NM_004333.6

p.L588V

c.1762C>G

17 papers

NM_004333.6

p.D587E

c.1761C>G

16 papers

NM_004333.6

p.D587E

c.1761C>A

5 papers

NM_004333.6

p.T589A

c.1765A>G

2 papers

NM_004333.6

p.T589P

c.1765A>C

1 paper

NM_004333.6

p.H585_L588del4

c.1753_1763del12

4 papers

NM_004333.6

p.T589I

c.1766C>T