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.R95*

c.283A>T

Surrounding Variants

1 paper

NM_004333.6

p.R95fs

c.283_284fs

2 papers

NM_004333.6

p.R95T

c.284G>C

1 paper

NM_004333.6

p.Q94H

c.282A>T

1 paper

NM_004333.6

p.E96*

c.286G>T

1 paper

NM_004333.6

p.E96K

c.286G>A

1 paper

NM_004333.6

p.R95delFs

c.285delT

1 paper

NM_004333.6

p.L92_R95delFs

c.276_285del10

2 papers

NM_004333.6

p.Q94K

c.280C>A

1 paper

NM_004333.6

p.Q93delFs

c.278delT

1 paper

NM_004333.6

p.Y82_Q93del12

c.244_278del36

1 paper

NM_004333.6

p.E96fs

c.286_287fs

2 papers

NM_004333.6

p.Q93H

c.279A>T