Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.D65D

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.D65D
c.195C>T
Surrounding Variants
1 paper
NM_001987.5
p.D65_V66insFs
c.195_196insA
1 paper
NM_001987.5
p.V66insFs
c.196_197insGG
1 paper
NM_001987.5
p.D65_Q68delins
c.195_202delinsGG
1 paper
NM_001987.5
p.D65_V66insFs
c.195_196ins11
1 paper
NM_001987.5
p.D65insFs
c.194_195ins5
1 paper
NM_001987.5
p.D65G
c.194A>G
5 papers
NM_001987.5
p.V66I
c.196G>A
1 paper
NM_001987.5
p.V66L
c.196G>C
1 paper
NM_001987.5
p.V66insFs
c.196_197insCC
4 papers
NM_001987.5
p.V66fs
c.196_197fs
1 paper
NM_001987.5
p.V66L
c.196G>T
3 papers
NM_001987.5
p.V66fs
c.196_197fs
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