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.P403H

c.1208C>A

Surrounding Variants

2 papers

NM_004333.6

p.P403L

c.1208C>T

7 papers

NM_004333.6

p.P403insFs

c.1208dupC

2 papers

NM_004333.6

p.P403insFs

c.1207_1208dupCC

20 papers

NM_004333.6

p.P403fs

c.1207_1208fs

10 papers

NM_004333.6

p.P403delFs

c.1208delG

11 papers

NM_004333.6

p.P403fs

c.1207_1208fs

1 paper

NM_004333.6

p.P403S

c.1207C>T

2 papers

NM_004333.6

p.P403A

c.1207C>G

1 paper

NM_004333.6

p.P403T

c.1207C>A

1 paper

NM_004333.6

p.A404P

c.1210G>C

2 papers

NM_004333.6

p.P403delFs

c.1209delA

10 papers

NM_004333.6

p.A404fs

c.1210_1211fs