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.S602C

c.1805C>G

Surrounding Variants

8 papers

NM_004333.6

p.S602F

c.1805C>T

10 papers

NM_004333.6

p.S602Y

c.1805C>A

1 paper

NM_004333.6

p.S602fs

c.1804_1805fs

5 papers

NM_004333.6

p.S602A

c.1804T>G

4 papers

NM_004333.6

p.S602S

c.1806T>G

3 papers

NM_004333.6

p.S602P

c.1804T>C

6 papers

NM_004333.6

p.S602T

c.1804T>A

41 papers

NM_004333.6

p.K601del1

c.1801_1802delTTT

1 paper

NM_004333.6

p.V600_K601del2

c.1798_1802del6

1 paper

NM_004333.6

p.T599_K601delFs

c.1796_1803del8

21 papers

NM_004333.6

p.R603*

c.1807C>T

2 papers

NM_004333.6

p.R603G

c.1807C>G