Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.Q68H

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
2 papers
NM_001987.5
p.Q68H
c.204G>C
Surrounding Variants
2 papers
NM_001987.5
p.Q68H
c.204G>T
1 paper
NM_001987.5
p.Q68insFs
c.203_204insC
2 papers
NM_001987.5
p.W69R
c.205T>A
1 paper
NM_001987.5
p.W69R
c.205T>C
1 paper
NM_001987.5
p.W69G
c.205T>G
1 paper
NM_001987.5
p.Q68_W69insT
c.202_206ins3
1 paper
NM_001987.5
p.Q68*
c.202C>T
2 papers
NM_001987.5
p.W69*
c.206G>A
1 paper
NM_001987.5
p.Q68_W69del2
c.202_206del6
3 papers
NM_001987.5
p.W69*
c.207G>A
1 paper
NM_001987.5
p.W69C
c.207G>C
1 paper
NM_001987.5
p.W69C
c.207G>T
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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."