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.S123C

c.368C>G

Surrounding Variants

2 papers

NM_004333.6

p.S123F

c.368C>T

1 paper

NM_004333.6

p.S122_S123delFs

c.366_367delAA

1 paper

NM_004333.6

p.S123A

c.367T>G

1 paper

NM_004333.6

p.S124A

c.370T>G

4 papers

NM_004333.6

p.S124F

c.371C>T

2 papers

NM_004333.6

p.S122F

c.365C>T

1 paper

NM_004333.6

p.S124insFs

c.370dupT

1 paper

NM_004333.6

p.S122Y

c.365C>A

1 paper

NM_004333.6

p.S122insFs

c.364_365ins7

1 paper

NM_004333.6

p.S122A

c.364T>G

1 paper

NM_004333.6

p.S122P

c.364T>C

3 papers

NM_004333.6

p.T121I

c.362C>T