Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.S193fs

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.S193fs
c.577_578fs
Surrounding Variants
1 paper
NM_001987.5
p.S193P
c.577T>C
1 paper
NM_001987.5
p.S193delFs
c.578delC
1 paper
NM_001987.5
p.S193insFs
c.577dupT
1 paper
NM_001987.5
p.P194Fs
c.581_582delinsTFs
1 paper
NM_001987.5
p.P194_D195ins5
c.580_584ins15
1 paper
NM_001987.5
p.P192S
c.574C>T
1 paper
NM_001987.5
p.P194S
c.580C>T
1 paper
NM_001987.5
p.P194L
c.581C>T
1 paper
NM_001987.5
p.R191R
c.573G>T
5 papers
NM_001987.5
p.R191Q
c.572G>A
1 paper
NM_001987.5
p.R191P
c.572G>C
2 papers
NM_001987.5
p.R191L
c.572G>T
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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."