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

1 paper

NM_004333.6

p.A557S

c.1669G>T

Surrounding Variants

1 paper

NM_004333.6

p.A557ins1

c.1669_1670insTTC

2 papers

NM_004333.6

p.A557T

c.1669G>A

1 paper

NM_004333.6

p.I551_I556del0

c.1652_1666del15

1 paper

NM_004333.6

p.A557V

c.1670C>T

4 papers

NM_004333.6

p.I556T

c.1667T>C

1 paper

NM_004333.6

p.D555_R558delins

c.1665_1672delinsCC

2 papers

NM_004333.6

p.R558*

c.1672C>T

1 paper

NM_004333.6

p.I556F

c.1666A>T

4 papers

NM_004333.6

p.R558Q

c.1673G>A

1 paper

NM_004333.6

p.I551_R558del0

c.1652_1672del21

1 paper

NM_004333.6

p.D555G

c.1664A>G

2 papers

NM_004333.6

p.D555Y

c.1663G>T