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.K154*

c.460A>T

Surrounding Variants

1 paper

NM_004333.6

p.K154fs

c.460_461fs

3 papers

NM_004333.6

p.K154I

c.461A>T

1 paper

NM_004333.6

p.Q153H

c.459A>T

1 paper

NM_004333.6

p.Q153_K154ins3

c.459_460ins9

1 paper

NM_004333.6

p.K154N

c.462A>T

1 paper

NM_004333.6

p.Q153delFs

c.457delG

1 paper

NM_004333.6

p.P155S

c.463C>T

1 paper

NM_004333.6

p.P155_I156ins5

c.463_467ins15

1 paper

NM_004333.6

p.Q153K

c.457C>A

1 paper

NM_004333.6

p.P155L

c.464C>T

1 paper

NM_004333.6

p.P152insFs

c.455_456insC

2 papers

NM_004333.6

p.P152fs

c.454_455fs