Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.L179*

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.L179*
c.536T>A
Surrounding Variants
1 paper
NM_001987.5
p.L179S
c.536T>C
1 paper
NM_001987.5
p.L179L
c.535T>C
1 paper
NM_001987.5
p.L179insFs
c.535_536insA
1 paper
NM_001987.5
p.H180fs
c.538_539fs
1 paper
NM_001987.5
p.H180Fs
c.538delinsGGCCTFs
1 paper
NM_001987.5
p.H180fs
c.538_539fs
2 papers
NM_001987.5
p.H180L
c.539A>T
1 paper
NM_001987.5
p.L178delFs
c.534delG
1 paper
NM_001987.5
p.L178fs
c.532_533fs
3 papers
NM_001987.5
p.R181C
c.541C>T
1 paper
NM_001987.5
p.E177G
c.530A>G
6 papers
NM_001987.5
p.R181H
c.542G>A
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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."