Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.R160fs

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.R160fs
c.478_479fs
Surrounding Variants
1 paper
NM_001987.5
p.R160insFs
c.480dupG
4 papers
NM_001987.5
p.R160W
c.478A>T
1 paper
NM_001987.5
p.R160K
c.479G>A
1 paper
NM_001987.5
p.R160insFs
c.479_480insGA
1 paper
NM_001987.5
p.Q159R
c.476A>G
1 paper
NM_001987.5
p.T161fs
c.481_482fs
1 paper
NM_001987.5
p.Q159K
c.475C>A
1 paper
NM_001987.5
p.Q159*
c.475C>T
1 paper
NM_001987.5
p.T161I
c.482C>T
1 paper
NM_001987.5
p.V158D
c.473T>A
4 papers
NM_001987.5
p.V158fs
c.472_473fs
3 papers
NM_001987.5
p.V158fs
c.472_473fs
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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."