Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.E327K

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.E327K
c.979G>A
Surrounding Variants
2 papers
NM_001987.5
p.E327Q
c.979G>C
1 paper
NM_001987.5
p.E327D
c.981G>C
1 paper
NM_001987.5
p.E327D
c.981G>T
2 papers
NM_001987.5
p.H328Y
c.982C>T
6 papers
NM_001987.5
p.E326K
c.976G>A
2 papers
NM_001987.5
p.E326fs
c.976_977fs
1 paper
NM_001987.5
p.E326insFs
c.976_977ins8
7 papers
NM_001987.5
p.A329T
c.985G>A
1 paper
NM_001987.5
p.A329V
c.986C>T
1 paper
NM_001987.5
p.A329A
c.987C>G
1 paper
NM_001987.5
p.P324L
c.971C>T
1 paper
NM_001987.5
p.P324_G333delFs
c.972_997del26
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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."