Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.R55R

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.R55R
c.165C>A
Surrounding Variants
1 paper
NM_001987.5
p.L56delFs
c.167delT
1 paper
NM_001987.5
p.R55H
c.164G>A
1 paper
NM_001987.5
p.R55fs
c.163_164fs
1 paper
NM_001987.5
p.L56M
c.166T>A
1 paper
NM_001987.5
p.R55Splc
c.164-1G>A
1 paper
NM_001987.5
p.R55Splc
c.164-1G>C
1 paper
NM_001987.5
p.L56W
c.167T>G
1 paper
NM_001987.5
p.R55Splc
c.164-2A>G
3 papers
NM_001987.5
p.Q57*
c.169C>T
1 paper
NM_001987.5
p.Q57Q
c.171G>A
1 paper
NM_001987.5
p.P58insFs
c.172_173insC
1 paper
NM_001987.5
p.P58T
c.172C>A
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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."