Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.G91R

ETV6

2,322 papers

RefSeq Summary

This gene encodes an ETS family transcription factor. The product of this gene contains two functional domains: a N-terminal pointed (PNT) domain that is involved in protein-protein interactions with ...

Pfam Domains

SAM_PNTaa 38–124UCSCSterile alpha motif (SAM)/Pointed domain
Etsaa 338–420UCSCEts-domain

Gene Aliases

HGNC Name

ETS variant transcription factor 6

HGNC Alias Symbol

TEL

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001987.5
p.G91R
c.271G>C
Surrounding Variants
1 paper
NM_001987.5
p.G91S
c.271G>A
1 paper
NM_001987.5
p.G91C
c.271G>T
2 papers
NM_001987.5
p.G91D
c.272G>A
1 paper
NM_001987.5
p.K92Q
c.274A>C
1 paper
NM_001987.5
p.M89Fs
c.267delinsCCCFs
1 paper
NM_001987.5
p.K92K
c.276A>G
1 paper
NM_001987.5
p.M89Fs
c.266_267delinsATGGGGGGGCCCFs
1 paper
NM_001987.5
p.M89fs
c.265_266fs
1 paper
NM_001987.5
p.M89V
c.265A>G
1 paper
NM_001987.5
p.M89fs
c.265_266fs
1 paper
NM_001987.5
p.A93_L94delFs
c.278_281del4
1 paper
NM_001987.5
p.M89_G91del3
c.265_272del9
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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."