Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.E74Q

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.E74Q
c.220G>C
Surrounding Variants
1 paper
NM_001987.5
p.E74K
c.220G>A
1 paper
NM_001987.5
p.E74_S78delFs
c.221_233del13
2 papers
NM_001987.5
p.E74A
c.221A>C
1 paper
NM_001987.5
p.E74del1
c.220_221delGAA
1 paper
NM_001987.5
p.A73V
c.218C>T
1 paper
NM_001987.5
p.N75fs
c.223_224fs
1 paper
NM_001987.5
p.N75_E76ins4
c.223_227ins12
1 paper
NM_001987.5
p.N75_P81delFs
c.225_243del19
4 papers
NM_001987.5
p.W72*
c.216G>A
3 papers
NM_001987.5
p.W72*
c.215G>A
1 paper
NM_001987.5
p.N75K
c.225T>A
2 papers
NM_001987.5
p.E76K
c.226G>A
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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."