Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.P221H

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.P221H
c.662C>A
Surrounding Variants
1 paper
NM_001987.5
p.P221S
c.661C>T
2 papers
NM_001987.5
p.R222fs
c.664_665fs
2 papers
NM_001987.5
p.R222K
c.665G>A
2 papers
NM_001987.5
p.G220V
c.659G>T
2 papers
NM_001987.5
p.G220R
c.658G>A
2 papers
NM_001987.5
p.G220R
c.658G>C
1 paper
NM_001987.5
p.R222S
c.666G>C
1 paper
NM_001987.5
p.R222S
c.666G>T
1 paper
NM_001987.5
p.P223fs
c.667_668fs
2 papers
NM_001987.5
p.P223S
c.667C>T
3 papers
NM_001987.5
p.Q219P
c.656A>C
1 paper
NM_001987.5
p.Q219delFs
c.657delG
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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."