Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.R217T

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.R217T
c.650G>C
Surrounding Variants
1 paper
NM_001987.5
p.R217insFs
c.650_651insT
1 paper
NM_001987.5
p.R217G
c.649A>G
1 paper
NM_001987.5
p.R217*
c.649A>T
1 paper
NM_001987.5
p.E216K
c.646G>A
1 paper
NM_001987.5
p.A215A
c.645T>G
3 papers
NM_001987.5
p.Q219P
c.656A>C
1 paper
NM_001987.5
p.Q219delFs
c.657delG
1 paper
NM_001987.5
p.G220delFs
c.658_659delGG
1 paper
NM_001987.5
p.A215D
c.644C>A
2 papers
NM_001987.5
p.A215V
c.644C>T
1 paper
NM_001987.5
p.A215fs
c.643_644fs
2 papers
NM_001987.5
p.G220R
c.658G>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."