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.F595F

c.1785T>C

Surrounding Variants

1 paper

NM_004333.6

p.F595_G596insFs

c.1785_1786insA

167 papers

NM_004333.6

p.F595L

c.1785T>G

162 papers

NM_004333.6

p.F595L

c.1785T>A

1 paper

NM_001378473.1

p.F543insFs

c.1628_1629insA

1 paper

NM_004333.6

p.F595C

c.1784T>G

19 papers

NM_004333.6

p.F595S

c.1784T>C

7 papers

NM_004333.6

p.F595Y

c.1784T>A

1 paper

NM_004333.6

p.G596fs

c.1786_1787fs

30 papers

NM_004333.6

p.G596C

c.1786G>T

224 papers

NM_004333.6

p.G596R

c.1786G>C

17 papers

NM_004333.6

p.G596S

c.1786G>A

1 paper

NM_001378473.1

p.F543del1

c.1627_1629delAAA