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.R603G

c.1807C>G

Surrounding Variants

21 papers

NM_004333.6

p.R603*

c.1807C>T

1 paper

NM_004333.6

p.V600_S602delFs

c.1799_1806del8

1 paper

NM_004333.6

p.S602fs

c.1804_1805fs

4 papers

NM_004333.6

p.S602S

c.1806T>G

4 papers

NM_004333.6

p.R603L

c.1808G>T

2 papers

NM_004333.6

p.R603P

c.1808G>C

18 papers

NM_004333.6

p.R603Q

c.1808G>A

1 paper

NM_004333.6

p.V600_R603delins

c.1799_1808delinsAGAAATCTCA

8 papers

NM_004333.6

p.S602F

c.1805C>T

2 papers

NM_004333.6

p.S602C

c.1805C>G

10 papers

NM_004333.6

p.S602Y

c.1805C>A

1 paper

NM_004333.6

p.R603R

c.1809A>T