Varaico: Literature-Extracted Genetic Variants

Gene:POTEJ
Variant:p.T849P

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
Selected Variant
1 paper
NM_001277083.2
p.T849P
c.2545A>C
Surrounding Variants
1 paper
NM_001277083.2
p.L848insFs
c.2544dupG
1 paper
NM_001277083.2
p.G845E
c.2534G>A
1 paper
NM_001277083.2
p.E858K
c.2572G>A
1 paper
NM_001277083.2
p.R859H
c.2576G>A
2 papers
NM_001277083.2
p.V872M
c.2614G>A
1 paper
NM_001277083.2
p.R873H
c.2618G>A
4 papers
NM_001277083.2
p.Y881F
c.2642A>T
5 papers
NM_001277083.2
p.M892T
c.2675T>C
4 papers
NM_001277083.2
p.M802V
c.2404A>G
1 paper
NM_001277083.2
p.V797M
c.2389G>A
1 paper
NM_001277083.2
p.Y903Y
c.2709C>T
1 paper
NM_001277083.2
p.S914G
c.2740A>G
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