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

58 papers

NM_004333.6

p.D594H

c.1780G>C

Surrounding Variants

23 papers

NM_004333.6

p.D594Y

c.1780G>T

1 paper

NM_001378473.1

p.D542insFs

c.1624_1625insT

415 papers

NM_004333.6

p.D594N

c.1780G>A

1 paper

NM_004333.6

p.G593_D594delins

c.1779_1780delinsGA

12 papers

NM_004333.6

p.G593G

c.1779T>A

101 papers

NM_004333.6

p.D594V

c.1781A>T

537 papers

NM_004333.6

p.D594G

c.1781A>G

101 papers

NM_004333.6

p.D594A

c.1781A>C

1 paper

NM_004333.6

p.D594delFs

c.1780delC

1 paper

NM_001378473.1

p.D542_F543insFs

c.1626_1627insC

82 papers

NM_004333.6

p.D594E

c.1782T>G

2 papers

NM_004333.6

p.D594D

c.1782T>C