Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.T86R

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.T86R
c.257C>G
Surrounding Variants
2 papers
NM_001987.5
p.T86M
c.257C>T
1 paper
NM_001987.5
p.T86fs
c.256_257fs
6 papers
NM_001987.5
p.T86T
c.258G>A
1 paper
NM_001987.5
p.F87fs
c.259_260fs
1 paper
NM_001987.5
p.N85S
c.254A>G
1 paper
NM_001987.5
p.F87C
c.260T>G
1 paper
NM_001987.5
p.N85fs
c.253_254fs
1 paper
NM_001987.5
p.N85fs
c.253_254fs
2 papers
NM_001987.5
p.S84R
c.252C>A
1 paper
NM_001987.5
p.S84R
c.252C>G
1 paper
NM_001987.5
p.S84S
c.252C>T
1 paper
NM_001987.5
p.E88K
c.262G>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."