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

60 papers

NM_004333.6

p.T599R

c.1796C>G

Surrounding Variants

142 papers

NM_004333.6

p.T599I

c.1796C>T

14 papers

NM_004333.6

p.T599ins1

c.1796_1797insTAC

3 papers

NM_004333.6

p.T599insFs

c.1795_1796insA

2 papers

NM_004333.6

p.I592_T599ins2

c.1775_1795dup21

1 paper

NM_004333.6

p.T599ins9

c.1795_1796ins27

6 papers

NM_004333.6

p.T599K

c.1796C>A

6 papers

NM_004333.6

p.T599S

c.1795A>T

3 papers

NM_004333.6

p.T599T

c.1797A>T

1 paper

NM_004333.6

p.T599delins

c.1797delinsTACT

14 papers

NM_004333.6

p.T599A

c.1795A>G

6 papers

NM_004333.6

p.T599T

c.1797A>G

1 paper

NM_004333.6

p.T599delins

c.1797delinsTACTACG