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.E96fs

c.286_287fs

Surrounding Variants

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

1 paper

NM_004333.6

p.E96A

c.287A>C

1 paper

NM_004333.6

p.E96insFs

c.287_288ins5

2 papers

NM_004333.6

p.R95T

c.284G>C

1 paper

NM_004333.6

p.E96_Q97insFs

c.288_289insC

1 paper

NM_004333.6

p.Q97*

c.289C>T

1 paper

NM_004333.6

p.Q97E

c.289C>G

2 papers

NM_004333.6

p.Q97K

c.289C>A

1 paper

NM_004333.6

p.E96del1

c.286_288delTTC