Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.W380insFs

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.W380insFs
c.1139dupG
Surrounding Variants
11 papers
NM_001987.5
p.W380R
c.1138T>A
11 papers
NM_001987.5
p.W380R
c.1138T>C
6 papers
NM_001987.5
p.W380G
c.1138T>G
1 paper
NM_001987.5
p.W380fs
c.1138_1139fs
1 paper
NM_001987.5
p.G381delFs
c.1142delG
2 papers
NM_001987.5
p.W380*
c.1139G>A
3 papers
NM_001987.5
p.W380*
c.1140G>A
1 paper
NM_001987.5
p.W380C
c.1140G>C
1 paper
NM_001987.5
p.W380C
c.1140G>T
4 papers
NM_001987.5
p.L379P
c.1136T>C
1 paper
NM_001987.5
p.L379M
c.1135C>A
4 papers
NM_001987.5
p.G381R
c.1141G>A
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