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.Q493H

c.1479G>C

Surrounding Variants

2 papers

NM_004333.6

p.Q493H

c.1479G>T

1 paper

NM_004333.6

p.Q494*

c.1480C>T

1 paper

NM_004333.6

p.Q494K

c.1480C>A

1 paper

NM_004333.6

p.T488_Q493del0

c.1463_1477del15

1 paper

NM_004333.6

p.Q493E

c.1477C>G

1 paper

NM_004333.6

p.P492insFs

c.1476dupT

1 paper

NM_004333.6

p.T491_P492del0

c.1471_1476del6

1 paper

NM_004333.6

p.T488_P492del0

c.1462_1476del15

1 paper

NM_004333.6

p.Q494insFs

c.1480_1481insC

1 paper

NM_004333.6

p.V487_P492del0

c.1461_1475del15

1 paper

NM_004333.6

p.Q494H

c.1482G>T

1 paper

NM_004333.6

p.Q494H

c.1482G>C