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.K473R

c.1418A>G

Surrounding Variants

1 paper

NM_004333.6

p.K473N

c.1419G>T

1 paper

NM_004333.6

p.K473N

c.1419G>C

11 papers

NM_004333.6

p.G474R

c.1420G>C

11 papers

NM_004333.6

p.G474R

c.1420G>A

1 paper

NM_004333.6

p.S467_K473del7

c.1399_1418del21

1 paper

NM_004333.6

p.Y472_K473ins1

c.1416_1417insTAC

2 papers

NM_004333.6

p.Y472fs

c.1414_1415fs

1 paper

NM_004333.6

p.Y472ins4

c.1415_1416ins12

1 paper

NM_004333.6

p.G474E

c.1421G>A

1 paper

NM_004333.6

p.Y472F

c.1415A>T

46 papers

NM_004333.6

p.Y472C

c.1415A>G

7 papers

NM_004333.6

p.Y472S

c.1415A>C