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

2 papers

NM_004333.6

p.L161P

c.482T>C

Surrounding Variants

3 papers

NM_004333.6

p.L161L

c.483G>A

2 papers

NM_004333.6

p.P162S

c.484C>T

1 paper

NM_004333.6

p.F160L

c.480C>G

1 paper

NM_004333.6

p.F160L

c.480C>A

1 paper

NM_004333.6

p.F160S

c.479T>C

2 papers

NM_004333.6

p.F160L

c.478T>C

1 paper

NM_004333.6

p.P162P

c.486C>T

1 paper

NM_004333.6

p.V159V

c.477C>T

1 paper

NM_004333.6

p.R158insFs

c.472_473dupAG

1 paper

NM_004333.6

p.N163S

c.488A>G

1 paper

NM_004333.6

p.V159F

c.475G>T

2 papers

NM_004333.6

p.V159L

c.475G>C