Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.N227D

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.N227D
c.679A>G
Surrounding Variants
1 paper
NM_001987.5
p.N227H
c.679A>C
1 paper
NM_001987.5
p.N227S
c.680A>G
1 paper
NM_001987.5
p.N227I
c.680A>T
1 paper
NM_001987.5
p.N227_S236del10
c.679_707del30
1 paper
NM_001987.5
p.N227_N228insFs
c.681_682ins5
1 paper
NM_001987.5
p.N228K
c.684C>A
2 papers
NM_001987.5
p.N228K
c.684C>G
1 paper
NM_001987.5
p.H229insFs
c.686_687insA
1 paper
NM_001987.5
p.N228_L235Fs
c.684_705delinsCCCFs
2 papers
NM_001987.5
p.H224Q
c.672C>A
2 papers
NM_001987.5
p.H224Q
c.672C>G
1 paper
NM_001987.5
p.H224fs
c.670_671fs
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