Varaico: Literature-Extracted Genetic Variants

Gene:BRAF
Variant:p.I50S

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.I50S
c.149T>G
Surrounding Variants
1 paper
NM_004333.6
p.I50T
c.149T>C
2 papers
NM_004333.6
p.I50N
c.149T>A
1 paper
NM_004333.6
p.I50M
c.150C>G
1 paper
NM_004333.6
p.I50I
c.150C>A
7 papers
NM_004333.6
p.I50F
c.148A>T
1 paper
NM_004333.6
p.I50V
c.148A>G
1 paper
NM_004333.6
p.I50L
c.148A>C
1 paper
NM_004333.6
p.N49K
c.147T>G
1 paper
NM_004333.6
p.N49K
c.147T>A
1 paper
NM_004333.6
p.I50_K51delins
c.150_151delinsCC
81 papers
NM_004333.6
p.N49I
c.146A>T
3 papers
NM_004333.6
p.N49S
c.146A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."