Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.G137*

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.G137*
c.409G>T
Surrounding Variants
1 paper
NM_001987.5
p.G137insFs
c.409_410insC
1 paper
NM_001987.5
p.G137E
c.410G>A
1 paper
NM_001987.5
p.N138insFs
c.412_413insGA
1 paper
NM_001987.5
p.P136L
c.407C>T
1 paper
NM_001987.5
p.N138fs
c.412_413fs
1 paper
NM_001987.5
p.N138D
c.412A>G
1 paper
NM_001987.5
p.N138_H141Fs
c.412_423delinsAFs
2 papers
NM_001987.5
p.P136S
c.406C>T
1 paper
NM_001987.5
p.N138T
c.413A>C
7 papers
NM_001987.5
p.S139delFs
c.416_417delCT
2 papers
NM_001987.5
p.P136delFs
c.406delC
1 paper
NM_001987.5
p.S139_I140insFs
c.415_418dup4
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