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.S467*

c.1400C>G

Surrounding Variants

83 papers

NM_004333.6

p.S467L

c.1400C>T

1 paper

NM_004333.6

p.S467*

c.1400C>A

35 papers

NM_004333.6

p.S467A

c.1399T>G

1 paper

NM_004333.6

p.S467P

c.1399T>C

1 paper

NM_004333.6

p.F468V

c.1402T>G

6 papers

NM_004333.6

p.F468L

c.1402T>C

1 paper

NM_004333.6

p.F468I

c.1402T>A

1 paper

NM_004333.6

p.G466G

c.1398A>G

1 paper

NM_004333.6

p.G466fs

c.1396_1397fs

39 papers

NM_004333.6

p.F468C

c.1403T>G

51 papers

NM_004333.6

p.F468S

c.1403T>C

1 paper

NM_004333.6

p.F468Y

c.1403T>A