Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.Y104_R105delFs

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.Y104_R105delFs
c.311_314del4
Surrounding Variants
1 paper
NM_001987.5
p.Y104D
c.310T>G
6 papers
NM_001987.5
p.Y104fs
c.310_311fs
2 papers
NM_001987.5
p.Y104C
c.311A>G
12 papers
NM_001987.5
p.R103H
c.308G>A
1 paper
NM_001987.5
p.R103P
c.308G>C
1 paper
NM_001987.5
p.R103ins1
c.308_309insCCC
2 papers
NM_001987.5
p.R103L
c.308G>T
1 paper
NM_001987.5
p.R103_S106Fs
c.308_318delinsAFs
1 paper
NM_001987.5
p.R105_S106delFs
c.313_317del5
2 papers
NM_001987.5
p.R103S
c.307C>A
2 papers
NM_001987.5
p.R105insFs
c.314dupG
1 paper
NM_001987.5
p.R103_Y104ins3
c.309_310ins9
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