Varaico: Literature-Extracted Genetic Variants

Gene:POTEJ

POTEJ

60 papers

Pfam Domains

Ank_2aa 106–199UCSCAnkyrin repeats (3 copies)
Ank_2aa 206–298UCSCAnkyrin repeats (3 copies)
Ank_2aa 267–331UCSCAnkyrin repeats (3 copies)
CCDC144Caa 548–671UCSCCCDC144C protein coiled-coil region
Actinaa 665–1038UCSCActin

Gene Aliases

HGNC Name

POTE ankyrin domain family member J

HGNC Alias Symbol

POTE2beta

Papers
RefSeq ID
Protein change
DNA change
1–12 of 60 variants
6 papers
NM_001277083.2
p.R615W
c.1843C>T
5 papers
NM_001277083.2
p.S397T
c.1190G>C
5 papers
NM_001277083.2
p.M892T
c.2675T>C
5 papers
NM_001277083.2
p.V1002M
c.3004G>A
4 papers
NM_001277083.2
p.M802V
c.2404A>G
4 papers
NM_001277083.2
p.Y881F
c.2642A>T
3 papers
NM_001277083.2
p.R779H
c.2336G>A
2 papers
NM_001277083.2
p.L240L
c.718C>T
2 papers
NM_001277083.2
p.A669T
c.2005G>A
2 papers
NM_001277083.2
p.V872M
c.2614G>A
2 papers
NM_001277083.2
p.W917R
c.2749T>A
2 papers
NM_001277083.2
p.W917R
c.2749T>C
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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."