Varaico: Literature-Extracted Genetic Variants

Gene:POTEC
Variant:p.W101*

POTEC

69 papers

Pfam Domains

Ank_2aa 143–236UCSCAnkyrin repeats (3 copies)
Ank_2aa 243–335UCSCAnkyrin repeats (3 copies)
CCDC144Caa 457–539UCSCCCDC144C protein coiled-coil region

Gene Aliases

HGNC Name

POTE ankyrin domain family member C

HGNC Previous Symbol

A26B2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001137671.2
p.W101*
c.303G>A
Surrounding Variants
1 paper
NM_001137671.2
p.W101*
c.302G>A
1 paper
NM_001137671.2
p.P107P
c.321C>A
1 paper
NM_001137671.2
p.C109Y
c.326G>A
1 paper
NM_001137671.2
p.T93T
c.279G>A
1 paper
NM_001137671.2
p.R110fs
c.328_329fs
1 paper
NM_001137671.2
p.T93M
c.278C>T
4 papers
NM_001137671.2
p.A119T
c.355G>A
1 paper
NM_001137671.2
p.V80L
c.238G>T
1 paper
NM_001137671.2
p.V80L
c.238G>C
1 paper
NM_001137671.2
p.D124V
c.371A>T
1 paper
NM_001137671.2
p.G76D
c.227G>A
3 papers
NM_001137671.2
p.C72Y
c.215G>A
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