Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.W61*

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
4 papers
NM_001987.5
p.W61*
c.183G>A
Surrounding Variants
3 papers
NM_001987.5
p.W61*
c.182G>A
2 papers
NM_001987.5
p.W61R
c.181T>A
1 paper
NM_001987.5
p.W61R
c.181T>C
1 paper
NM_001987.5
p.W61G
c.181T>G
1 paper
NM_001987.5
p.S62S
c.186C>T
1 paper
NM_001987.5
p.Y60C
c.179A>G
2 papers
NM_001987.5
p.R63W
c.187A>T
1 paper
NM_001987.5
p.R63K
c.188G>A
2 papers
NM_001987.5
p.Y60fs
c.178_179fs
1 paper
NM_001987.5
p.D64del1
c.190_191delGAT
1 paper
NM_001987.5
p.D64insFs
c.191dupA
1 paper
NM_001987.5
p.I59T
c.176T>C
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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."