Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.Y233Y

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.Y233Y
c.699C>T
Surrounding Variants
1 paper
NM_001987.5
p.Y233*
c.699C>A
1 paper
NM_001987.5
p.Y233*
c.699C>G
1 paper
NM_001987.5
p.P234_V237del4
c.700_710del12
2 papers
NM_001987.5
p.P234insFs
c.701dupC
2 papers
NM_001987.5
p.Y233C
c.698A>G
1 paper
NM_001987.5
p.P234insFs
c.700_701insCT
1 paper
NM_001987.5
p.P234insFs
c.700_701ins4
2 papers
NM_001987.5
p.P234fs
c.700_701fs
1 paper
NM_001987.5
p.P234A
c.700C>G
1 paper
NM_001987.5
p.Y233insFs
c.697_698insA
1 paper
NM_001987.5
p.Y233fs
c.697_698fs
2 papers
NM_001987.5
p.L235fs
c.703_704fs
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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."