Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.I120V

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
1 paper
NM_001987.5
p.I120V
c.358A>G
Surrounding Variants
1 paper
NM_001987.5
p.H119Q
c.357T>A
1 paper
NM_001987.5
p.I120T
c.359T>C
2 papers
NM_001987.5
p.H119Q
c.357T>G
1 paper
NM_001987.5
p.H119P
c.356A>C
1 paper
NM_001987.5
p.H119R
c.356A>G
1 paper
NM_001987.5
p.L121insFs
c.361_362ins4
1 paper
NM_001987.5
p.H119N
c.355C>A
1 paper
NM_001987.5
p.H119Y
c.355C>T
1 paper
NM_001987.5
p.K122Q
c.364A>C
1 paper
NM_001987.5
p.Q118fs
c.352_353fs
1 paper
NM_001987.5
p.Q118*
c.352C>T
1 paper
NM_001987.5
p.K122R
c.365A>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."