Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.Y346*

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.Y346*
c.1038T>A
Surrounding Variants
1 paper
NM_001987.5
p.Y346*
c.1038T>G
2 papers
NM_001987.5
p.Y346C
c.1037A>G
1 paper
NM_001987.5
p.Y346F
c.1037A>T
6 papers
NM_001987.5
p.Q347*
c.1039C>T
1 paper
NM_001987.5
p.Q347fs
c.1039_1040fs
6 papers
NM_001987.5
p.Q347P
c.1040A>C
1 paper
NM_001987.5
p.Q347R
c.1040A>G
1 paper
NM_001987.5
p.Y346H
c.1036T>C
2 papers
NM_001987.5
p.Y346fs
c.1036_1037fs
1 paper
NM_001987.5
p.Y346insFs
c.1036dupT
2 papers
NM_001987.5
p.V345G
c.1034T>G
1 paper
NM_001987.5
p.L348V
c.1042T>G
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