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.I50_K51delins

c.150_151delinsCC

Surrounding Variants

1 paper

NM_004333.6

p.I50M

c.150C>G

1 paper

NM_004333.6

p.I50I

c.150C>A

2 papers

NM_004333.6

p.K51R

c.152A>G

1 paper

NM_004333.6

p.I50S

c.149T>G

1 paper

NM_004333.6

p.I50T

c.149T>C

2 papers

NM_004333.6

p.I50N

c.149T>A

2 papers

NM_004333.6

p.K51N

c.153A>T

1 paper

NM_004333.6

p.K51N

c.153A>C

2 papers

NM_004333.6

p.Q52*

c.154C>T

7 papers

NM_004333.6

p.I50F

c.148A>T

1 paper

NM_004333.6

p.I50V

c.148A>G

1 paper

NM_004333.6

p.I50L

c.148A>C