Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.H135delFs

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
2 papers
NM_001987.5
p.H135delFs
c.403delC
Surrounding Variants
1 paper
NM_001987.5
p.F134L
c.400T>C
2 papers
NM_001987.5
p.H135fs
c.403_404fs
1 paper
NM_001987.5
p.H135insFs
c.403_404insT
1 paper
NM_001987.5
p.H135fs
c.403_404fs
2 papers
NM_001987.5
p.P136delFs
c.406delC
1 paper
NM_001987.5
p.F133L
c.397T>C
1 paper
NM_001987.5
p.F133fs
c.397_398fs
1 paper
NM_001987.5
p.F133delFs
c.398delT
2 papers
NM_001987.5
p.P136S
c.406C>T
1 paper
NM_001987.5
p.P132ins2
c.395_396ins6
1 paper
NM_001987.5
p.P136L
c.407C>T
1 paper
NM_001987.5
p.P132T
c.394C>A
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