Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.D195N

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.D195N
c.583G>A
Surrounding Variants
1 paper
NM_001987.5
p.D195_P196insA
c.583_587ins3
1 paper
NM_001987.5
p.D195_P196ins11
c.583_587ins33
1 paper
NM_001987.5
p.D195fs
c.583_584fs
1 paper
NM_001987.5
p.D195G
c.584A>G
1 paper
NM_001987.5
p.D195E
c.585C>A
1 paper
NM_001987.5
p.D195E
c.585C>G
1 paper
NM_001987.5
p.P194L
c.581C>T
2 papers
NM_001987.5
p.P196_E197insGG
c.586_590ins6
1 paper
NM_001987.5
p.P194_D195ins5
c.580_584ins15
1 paper
NM_001987.5
p.P194S
c.580C>T
1 paper
NM_001987.5
p.P194Fs
c.581_582delinsTFs
2 papers
NM_001987.5
p.P196P
c.588C>T
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