Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.R259delFs

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
2 papers
NM_001987.5
p.R259delFs
c.775delC
Surrounding Variants
1 paper
NM_001987.5
p.P258S
c.772C>T
1 paper
NM_001987.5
p.P255P
c.765A>T
2 papers
NM_001987.5
p.R259fs
c.775_776fs
1 paper
NM_001987.5
p.R259G
c.775C>G
1 paper
NM_001987.5
p.R259W
c.775C>T
1 paper
NM_001987.5
p.R259fs
c.775_776fs
6 papers
NM_001987.5
p.R259Q
c.776G>A
1 paper
NM_001987.5
p.R259L
c.776G>T
1 paper
NM_001987.5
p.P255T
c.763C>A
1 paper
NM_001987.5
p.P255S
c.763C>T
1 paper
NM_001987.5
p.Q260fs
c.778_779fs
1 paper
NM_001987.5
p.Q260*
c.778C>T
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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."