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.P141R

c.422C>G

Surrounding Variants

1 paper

NM_004333.6

p.P141H

c.422C>A

1 paper

NM_004333.6

p.N140S

c.419A>G

3 papers

NM_004333.6

p.N140T

c.419A>C

1 paper

NM_004333.6

p.N140D

c.418A>G

1 paper

NM_004333.6

p.T142T

c.426A>C

1 paper

NM_004333.6

p.D143Y

c.427G>T

1 paper

NM_004333.6

p.D143H

c.427G>C

3 papers

NM_004333.6

p.D143N

c.427G>A

2 papers

NM_004333.6

p.Q139H

c.417A>T

2 papers

NM_004333.6

p.Q139H

c.417A>C

1 paper

NM_004333.6

p.Q139R

c.416A>G

1 paper

NM_004333.6

p.D143E

c.429T>G