Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.I140fs

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.I140fs
c.418_419fs
Surrounding Variants
2 papers
NM_001987.5
p.I140fs
c.418_419fs
1 paper
NM_001987.5
p.I140_H141ins5
c.418_422ins15
1 paper
NM_001987.5
p.I140V
c.418A>G
1 paper
NM_001987.5
p.I140K
c.419T>A
1 paper
NM_001987.5
p.I140insFs
c.419_420ins4
3 papers
NM_001987.5
p.Q143delFs
c.427_428delCA
1 paper
NM_001987.5
p.I140M
c.420A>G
1 paper
NM_001987.5
p.H141_L148delFs
c.421_442del22
1 paper
NM_001987.5
p.S139Y
c.416C>A
2 papers
NM_001987.5
p.I140insFs
c.419_420dupTA
2 papers
NM_001987.5
p.S139F
c.416C>T
1 paper
NM_001987.5
p.S139delFs
c.417delT
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