Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.S84R

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.S84R
c.250A>C
Surrounding Variants
1 paper
NM_001987.5
p.S84I
c.251G>T
1 paper
NM_001987.5
p.D83A
c.248A>C
1 paper
NM_001987.5
p.D83G
c.248A>G
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.N85fs
c.253_254fs
1 paper
NM_001987.5
p.N85fs
c.253_254fs
1 paper
NM_001987.5
p.D83H
c.247G>C
1 paper
NM_001987.5
p.D83delFs
c.248delA
1 paper
NM_001987.5
p.N85S
c.254A>G
2 papers
NM_001987.5
p.I82M
c.246T>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."