Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.P81insFs

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.P81insFs
c.242_243ins4
Surrounding Variants
1 paper
NM_001987.5
p.P81R
c.242C>G
2 papers
NM_001987.5
p.P81L
c.242C>T
1 paper
NM_001987.5
p.P81P
c.243A>C
2 papers
NM_001987.5
p.P81S
c.241C>T
1 paper
NM_001987.5
p.I82insFs
c.246dupT
1 paper
NM_001987.5
p.R80_P81insFs
c.240_241insC
3 papers
NM_001987.5
p.I82T
c.245T>C
1 paper
NM_001987.5
p.R80fs
c.238_239fs
1 paper
NM_001987.5
p.R80G
c.238A>G
2 papers
NM_001987.5
p.I82M
c.246T>G
1 paper
NM_001987.5
p.D83H
c.247G>C
1 paper
NM_001987.5
p.D83delFs
c.248delA
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