Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.D111A

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.D111A
c.332A>C
Surrounding Variants
1 paper
NM_001987.5
p.D111G
c.332A>G
1 paper
NM_001987.5
p.D111V
c.332A>T
2 papers
NM_001987.5
p.D111N
c.331G>A
1 paper
NM_001987.5
p.D111H
c.331G>C
3 papers
NM_001987.5
p.D111fs
c.331_332fs
1 paper
NM_001987.5
p.D111_V112ins14
c.331_335ins42
1 paper
NM_001987.5
p.D111Y
c.331G>T
3 papers
NM_001987.5
p.D111E
c.333T>A
1 paper
NM_001987.5
p.D111E
c.333T>G
2 papers
NM_001987.5
p.D111delFs
c.331delG
2 papers
NM_001987.5
p.G110D
c.329G>A
1 paper
NM_001987.5
p.G110V
c.329G>T
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