Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.D311fs

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.D311fs
c.931_932fs
Surrounding Variants
1 paper
NM_001987.5
p.D311insFs
c.932_933insT
1 paper
NM_001987.5
p.D311A
c.932A>C
2 papers
NM_001987.5
p.E310E
c.930A>G
1 paper
NM_001987.5
p.D311_Y314del4
c.931_941del12
1 paper
NM_001987.5
p.E310A
c.929A>C
1 paper
NM_001987.5
p.E310*
c.928G>T
1 paper
NM_001987.5
p.A313_H317del5
c.937_950del15
1 paper
NM_001987.5
p.R309_E310ins9
c.925_929ins27
1 paper
NM_001987.5
p.R309G
c.925C>G
1 paper
NM_001987.5
p.R309W
c.925C>T
1 paper
NM_001987.5
p.A313_Y314insT
c.937_941ins3
1 paper
NM_001987.5
p.A313_Y314insGG
c.937_941ins6
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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."