Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.Y391fs

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.Y391fs
c.1171_1172fs
Surrounding Variants
1 paper
NM_001987.5
p.Y391N
c.1171T>A
1 paper
NM_001987.5
p.Y391H
c.1171T>C
1 paper
NM_001987.5
p.Y391D
c.1171T>G
1 paper
NM_001987.5
p.Y391S
c.1172A>C
13 papers
NM_001987.5
p.Y391C
c.1172A>G
2 papers
NM_001987.5
p.T390I
c.1169C>T
1 paper
NM_001987.5
p.T390fs
c.1168_1169fs
1 paper
NM_001987.5
p.T390P
c.1168A>C
5 papers
NM_001987.5
p.T390A
c.1168A>G
2 papers
NM_001987.5
p.T390delFs
c.1170delC
4 papers
NM_001987.5
p.E392K
c.1174G>A
1 paper
NM_001987.5
p.E392V
c.1175A>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."