Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.H275Y

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.H275Y
c.823C>T
Surrounding Variants
1 paper
NM_001987.5
p.H275N
c.823C>A
1 paper
NM_001987.5
p.H275fs
c.823_824fs
2 papers
NM_001987.5
p.H275H
c.825C>T
1 paper
NM_001987.5
p.M274V
c.820A>G
1 paper
NM_001987.5
p.P276H
c.827C>A
2 papers
NM_001987.5
p.I273I
c.819C>T
1 paper
NM_001987.5
p.L277_L279Fs
c.829_837delinsCCTGFs
1 paper
NM_001987.5
p.I278_P281del4
c.832_842del12
1 paper
NM_001987.5
p.I278insFs
c.832_833insC
1 paper
NM_001987.5
p.I278fs
c.832_833fs
1 paper
NM_001987.5
p.L279delins
c.837delinsCCTG
1 paper
NM_001987.5
p.P272T
c.814C>A
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