Varaico: Literature-Extracted Genetic Variants

Gene:POTEJ
Variant:p.W917R

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
2 papers
NM_001277083.2
p.W917R
c.2749T>C
Surrounding Variants
2 papers
NM_001277083.2
p.W917R
c.2749T>A
1 paper
NM_001277083.2
p.S914G
c.2740A>G
1 paper
NM_001277083.2
p.Y903Y
c.2709C>T
1 paper
NM_001277083.2
p.S934F
c.2801C>T
1 paper
NM_001277083.2
p.T941A
c.2821A>G
5 papers
NM_001277083.2
p.M892T
c.2675T>C
4 papers
NM_001277083.2
p.Y881F
c.2642A>T
1 paper
NM_001277083.2
p.R873H
c.2618G>A
2 papers
NM_001277083.2
p.V872M
c.2614G>A
1 paper
NM_001277083.2
p.M972I
c.2916G>A
1 paper
NM_001277083.2
p.M972I
c.2916G>C
1 paper
NM_001277083.2
p.M972I
c.2916G>T
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