Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.Y344fs

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.Y344fs
c.1030_1031fs
Surrounding Variants
1 paper
NM_001987.5
p.Y344H
c.1030T>C
1 paper
NM_001987.5
p.Y344insFs
c.1030_1031insC
1 paper
NM_001987.5
p.Y344S
c.1031A>C
3 papers
NM_001987.5
p.Y344C
c.1031A>G
12 papers
NM_001987.5
p.D343_Y344insFs
c.1029_1030insT
1 paper
NM_001987.5
p.Y344*
c.1032C>A
1 paper
NM_001987.5
p.Y344*
c.1032C>G
1 paper
NM_001987.5
p.V345delFs
c.1033delG
1 paper
NM_001987.5
p.D343N
c.1027G>A
1 paper
NM_001987.5
p.V345I
c.1033G>A
1 paper
NM_001987.5
p.V345L
c.1033G>C
2 papers
NM_001987.5
p.V345fs
c.1033_1034fs
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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."