Varaico: Literature-Extracted Genetic Variants

Gene:POTEJ
Variant:p.A669T

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.A669T
c.2005G>A
Surrounding Variants
1 paper
NM_001277083.2
p.V672F
c.2014G>T
1 paper
NM_001277083.2
p.D674fs
c.2020_2021fs
1 paper
NM_001277083.2
p.D674V
c.2021A>T
1 paper
NM_001277083.2
p.D674delFs
c.2022delC
1 paper
NM_001277083.2
p.T663P
c.1987A>C
1 paper
NM_001277083.2
p.G676S
c.2026G>A
1 paper
NM_001277083.2
p.L653I
c.1957C>A
1 paper
NM_001277083.2
p.K636E
c.1906A>G
1 paper
NM_001277083.2
p.G709D
c.2126G>A
1 paper
NM_001277083.2
p.K713I
c.2138A>T
1 paper
NM_001277083.2
p.K719N
c.2157G>C
1 paper
NM_001277083.2
p.K719N
c.2157G>T
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