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

7 papers

NM_004333.6

p.W531R

c.1591T>C

Surrounding Variants

7 papers

NM_004333.6

p.W531R

c.1591T>A

10 papers

NM_004333.6

p.W531L

c.1592G>T

4 papers

NM_004333.6

p.W531*

c.1592G>A

21 papers

NM_004333.6

p.W531C

c.1593G>T

22 papers

NM_004333.6

p.W531C

c.1593G>C

2 papers

NM_004333.6

p.W531*

c.1593G>A

1 paper

NM_004333.6

p.Q530L

c.1589A>T

1 paper

NM_004333.6

p.Q530delFs

c.1588delG

1 paper

NM_004333.6

p.W531delFs

c.1593delC

1 paper

NM_004333.6

p.Q530*

c.1588C>T

2 papers

NM_004333.6

p.Q530K

c.1588C>A

8 papers

NM_004333.6

p.C532Y

c.1595G>A