Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.V371_D372insFs

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.V371_D372insFs
c.1113_1114insT
Surrounding Variants
2 papers
NM_001987.5
p.D372N
c.1114G>A
1 paper
NM_001987.5
p.D372H
c.1114G>C
1 paper
NM_001987.5
p.D372fs
c.1114_1115fs
1 paper
NM_001987.5
p.D372insFs
c.1116dupT
1 paper
NM_001987.5
p.D372G
c.1115A>G
1 paper
NM_001987.5
p.V371L
c.1111G>C
1 paper
NM_001987.5
p.V371L
c.1111G>T
1 paper
NM_001987.5
p.I370M
c.1110A>G
1 paper
NM_001987.5
p.V371delFs
c.1111delG
1 paper
NM_001987.5
p.P373delFs
c.1119delC
1 paper
NM_001987.5
p.P373S
c.1117C>T
1 paper
NM_001987.5
p.I370R
c.1109T>G
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