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.H542L

c.1625A>T

Surrounding Variants

3 papers

NM_004333.6

p.H542Y

c.1624C>T

1 paper

NM_004333.6

p.H542insFs

c.1624_1625insT

1 paper

NM_004333.6

p.I543V

c.1627A>G

1 paper

NM_004333.6

p.I543insFs

c.1628_1629insA

1 paper

NM_004333.6

p.L541F

c.1621C>T

1 paper

NM_004333.6

p.I543I

c.1629C>A

2 papers

NM_004333.6

p.H540Q

c.1620T>G

2 papers

NM_004333.6

p.H540Q

c.1620T>A

12 papers

NM_004333.6

p.I544S

c.1631T>G

3 papers

NM_004333.6

p.I544T

c.1631T>C

1 paper

NM_004333.6

p.I544I

c.1632T>C

2 papers

NM_004333.6

p.H540N

c.1618C>A