Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.K288insFs

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.K288insFs
c.862_863insG
Surrounding Variants
1 paper
NM_001987.5
p.F287S
c.860T>C
1 paper
NM_001987.5
p.F287insFs
c.860_861ins5
2 papers
NM_001987.5
p.Q289*
c.865C>T
2 papers
NM_001987.5
p.F287fs
c.859_860fs
1 paper
NM_001987.5
p.F287_K288insFs
c.860_863dup4
1 paper
NM_001987.5
p.F287fs
c.859_860fs
1 paper
NM_001987.5
p.Q289P
c.866A>C
2 papers
NM_001987.5
p.Q289R
c.866A>G
1 paper
NM_001987.5
p.D286E
c.858T>A
1 paper
NM_001987.5
p.D286E
c.858T>G
1 paper
NM_001987.5
p.D286N
c.856G>A
1 paper
NM_001987.5
p.S290A
c.868T>G
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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."