Varaico: Literature-Extracted Genetic Variants

Gene:BRAF
Variant:p.A598V

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
61 papers
NM_004333.6
p.A598V
c.1793C>T
Surrounding Variants
2 papers
NM_004333.6
p.A598G
c.1793C>G
2 papers
NM_004333.6
p.A598ins1
c.1793_1794insTGT
3 papers
NM_004333.6
p.A598D
c.1793C>A
14 papers
NM_004333.6
p.A598_T599ins1
c.1794_1795insGTT
1 paper
NM_004333.6
p.I582_A598ins5
c.1746_1793dup48
1 paper
NM_004333.6
p.A598_T599ins1
c.1794_1795insACA
1 paper
NM_004333.6
p.A598A
c.1794T>G
3 papers
NM_004333.6
p.A598A
c.1794T>C
6 papers
NM_004333.6
p.A598A
c.1794T>A
2 papers
NM_004333.6
p.A598S
c.1792G>T
1 paper
NM_004333.6
p.A598_T599ins8
c.1792_1796ins24
1 paper
NM_004333.6
p.A598_T599ins14
c.1792_1796ins42
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