Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.R264H

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
3 papers
NM_001987.5
p.R264H
c.791G>A
Surrounding Variants
1 paper
NM_001987.5
p.R264L
c.791G>T
1 paper
NM_001987.5
p.R264R
c.792C>G
3 papers
NM_001987.5
p.R264C
c.790C>T
1 paper
NM_001987.5
p.V265M
c.793G>A
1 paper
NM_001987.5
p.T263insFs
c.788dupC
1 paper
NM_001987.5
p.T263S
c.787A>T
1 paper
NM_001987.5
p.S262N
c.785G>A
1 paper
NM_001987.5
p.S262I
c.785G>T
1 paper
NM_001987.5
p.Q267delFs
c.799delC
1 paper
NM_001987.5
p.Q267fs
c.799_800fs
3 papers
NM_001987.5
p.Q267*
c.799C>T
1 paper
NM_001987.5
p.E261G
c.782A>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."