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_001378473.1

p.G426Splc

c.1276+34C>T

Surrounding Variants

1 paper

NM_001378473.1

p.G426Splc

c.1276+13T>G

1 paper

NM_004333.6

p.G478Splc

c.1432+3A>G

1 paper

NM_004333.6

p.G478Splc

c.1432+1G>A

1 paper

NM_004333.6

p.H477_G478delFs

c.1431_1432delCA

1 paper

NM_004333.6

p.G478ins1

c.1432_1433insAAG

1 paper

NM_004333.6

p.H477R

c.1430A>G

1 paper

NM_004333.6

p.H477Y

c.1429C>T

2 papers

NM_004333.6

p.W476*

c.1428G>A

1 paper

NM_001378473.1

p.W424L

c.1271G>T

2 papers

NM_004333.6

p.W476*

c.1427G>A

1 paper

NM_001378473.1

p.W424R

c.1270T>C

1 paper

NM_001378473.1

p.W424R

c.1270T>A