Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.T187T

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.T187T
c.561G>A
Surrounding Variants
1 paper
NM_001987.5
p.T188insFs
c.562_563insC
1 paper
NM_001987.5
p.T188fs
c.562_563fs
2 papers
NM_001987.5
p.T187M
c.560C>T
1 paper
NM_001987.5
p.T187fs
c.559_560fs
1 paper
NM_001987.5
p.T187A
c.559A>G
1 paper
NM_001987.5
p.T187S
c.559A>T
1 paper
NM_001987.5
p.T187fs
c.559_560fs
1 paper
NM_001987.5
p.T188I
c.563C>T
1 paper
NM_001987.5
p.N189delFs
c.566delA
1 paper
NM_001987.5
p.N189fs
c.565_566fs
1 paper
NM_001987.5
p.N189Y
c.565A>T
1 paper
NM_001987.5
p.N189fs
c.565_566fs
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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."