Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.R105*

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
13 papers
NM_001987.5
p.R105*
c.313C>T
Surrounding Variants
2 papers
NM_001987.5
p.R105insFs
c.314dupG
1 paper
NM_001987.5
p.R105insFs
c.313_314insGG
1 paper
NM_001987.5
p.R105ins1
c.314_315insGGG
1 paper
NM_001987.5
p.R105ins2
c.314_315ins6
8 papers
NM_001987.5
p.R105fs
c.313_314fs
1 paper
NM_001987.5
p.R105insFs
c.313_314insT
10 papers
NM_001987.5
p.R105G
c.313C>G
1 paper
NM_001987.5
p.R105fs
c.313_314fs
5 papers
NM_001987.5
p.R105Q
c.314G>A
4 papers
NM_001987.5
p.R105P
c.314G>C
1 paper
NM_001987.5
p.R105_S106delFs
c.313_317del5
2 papers
NM_001987.5
p.Y104C
c.311A>G
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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."