Varaico: Literature-Extracted Genetic Variants

Gene:POTEJ
Variant:p.D88G

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.D88G
c.263A>G
Surrounding Variants
1 paper
NM_001277083.2
p.R100G
c.298C>G
1 paper
NM_001277083.2
p.D119N
c.355G>A
1 paper
NM_001277083.2
p.T53A
c.157A>G
1 paper
NM_001277083.2
p.S52F
c.155C>T
1 paper
NM_001277083.2
p.S38S
c.114C>T
1 paper
NM_001277083.2
p.F18Y
c.53T>A
1 paper
NM_001277083.2
p.L223F
c.669A>T
2 papers
NM_001277083.2
p.L240L
c.718C>T
1 paper
NM_001277083.2
p.A263V
c.788C>T
1 paper
NM_001277083.2
p.L286P
c.857T>C
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