Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.S323C

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.S323C
c.968C>G
Surrounding Variants
1 paper
NM_001987.5
p.S323S
c.969C>T
1 paper
NM_001987.5
p.S323P
c.967T>C
1 paper
NM_001987.5
p.P325_A329delFs
c.975_987del13
1 paper
NM_001987.5
p.P324L
c.971C>T
1 paper
NM_001987.5
p.P324_G333delFs
c.972_997del26
1 paper
NM_001987.5
p.V322A
c.965T>C
1 paper
NM_001987.5
p.V322G
c.965T>G
1 paper
NM_001987.5
p.S321F
c.962C>T
1 paper
NM_001987.5
p.S321fs
c.961_962fs
6 papers
NM_001987.5
p.E326K
c.976G>A
2 papers
NM_001987.5
p.E326fs
c.976_977fs
1 paper
NM_001987.5
p.E326insFs
c.976_977ins8
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."