Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.R282Q

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.R282Q
c.845G>A
Surrounding Variants
3 papers
NM_001987.5
p.R282W
c.844C>T
2 papers
NM_001987.5
p.R282fs
c.844_845fs
1 paper
NM_001987.5
p.H283N
c.847C>A
1 paper
NM_001987.5
p.H283Y
c.847C>T
1 paper
NM_001987.5
p.H283fs
c.847_848fs
3 papers
NM_001987.5
p.P281L
c.842C>T
1 paper
NM_001987.5
p.H283Q
c.849C>A
1 paper
NM_001987.5
p.P281A
c.841C>G
1 paper
NM_001987.5
p.H283Q
c.849C>G
1 paper
NM_001987.5
p.H283H
c.849C>T
3 papers
NM_001987.5
p.S284P
c.850T>C
1 paper
NM_001987.5
p.S284A
c.850T>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."