Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.E294*

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.E294*
c.880G>T
Surrounding Variants
1 paper
NM_001987.5
p.S293T
c.877T>A
1 paper
NM_001987.5
p.D295G
c.884A>G
1 paper
NM_001987.5
p.S293_I304delFs
c.877_910del34
1 paper
NM_001987.5
p.D295_G296insFs
c.885_886insA
1 paper
NM_001987.5
p.L292P
c.875T>C
1 paper
NM_001987.5
p.L292_S293insA
c.874_878ins3
1 paper
NM_001987.5
p.L292V
c.874C>G
1 paper
NM_001987.5
p.G296R
c.886G>A
1 paper
NM_001987.5
p.G296R
c.886G>C
1 paper
NM_001987.5
p.G296_L297ins5
c.886_890ins15
4 papers
NM_001987.5
p.R291K
c.872G>A
1 paper
NM_001987.5
p.R291M
c.872G>T
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