Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.R127W

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
5 papers
NM_001987.5
p.R127W
c.379C>T
Surrounding Variants
1 paper
NM_001987.5
p.R127G
c.379C>G
14 papers
NM_001987.5
p.R127Q
c.380G>A
1 paper
NM_001987.5
p.R127P
c.380G>C
1 paper
NM_001987.5
p.R127L
c.380G>T
1 paper
NM_001987.5
p.P126P
c.378T>A
1 paper
NM_001987.5
p.P126R
c.377C>G
1 paper
NM_001987.5
p.I128T
c.383T>C
1 paper
NM_001987.5
p.K125_P126insFs
c.375_376ins4
5 papers
NM_001987.5
p.L129_I140delFs
c.385_418del34
4 papers
NM_001987.5
p.L129fs
c.385_386fs
2 papers
NM_001987.5
p.S131insFs
c.391dupT
1 paper
NM_001987.5
p.S131delFs
c.391delT
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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."