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

192 papers

NM_004333.6

p.L597V

c.1789C>G

Surrounding Variants

5 papers

NM_004333.6

p.L597L

c.1789C>T

5 papers

NM_004333.6

p.L597I

c.1789C>A

238 papers

NM_004333.6

p.L597R

c.1790T>G

26 papers

NM_004333.6

p.L597P

c.1790T>C

1 paper

NM_004333.6

p.G596G

c.1788T>C

215 papers

NM_004333.6

p.L597Q

c.1790T>A

1 paper

NM_004333.6

p.G596delFs

c.1787delC

8 papers

NM_004333.6

p.L597delins

c.1789_1790delinsTC

1 paper

NM_004333.6

p.L597delins

c.1789_1790delinsAA

64 papers

NM_004333.6

p.G596V

c.1787G>T

12 papers

NM_004333.6

p.G596A

c.1787G>C

59 papers

NM_004333.6

p.G596D

c.1787G>A