Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.S109*

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.S109*
c.326C>A
Surrounding Variants
3 papers
NM_001987.5
p.S109*
c.326C>G
2 papers
NM_001987.5
p.S109A
c.325T>G
1 paper
NM_001987.5
p.G110S
c.328G>A
3 papers
NM_001987.5
p.G110Splc
c.328+1G>A
1 paper
NM_001987.5
p.G110A
c.329G>C
1 paper
NM_001987.5
p.G110V
c.329G>T
2 papers
NM_001987.5
p.H108insFs
c.322_323insGT
1 paper
NM_001987.5
p.H108fs
c.322_323fs
1 paper
NM_001987.5
p.H108D
c.322C>G
1 paper
NM_001987.5
p.H108Y
c.322C>T
1 paper
NM_001987.5
p.G110Splc
c.328+2T>C
1 paper
NM_001987.5
p.P107P
c.321T>A
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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."