Varaico: Literature-Extracted Genetic Variants

Gene:POTEC

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
1–12 of 66 variants
5 papers
NM_001137671.2
p.C221R
c.661T>C
4 papers
NM_001137671.2
p.K40M
c.119A>T
4 papers
NM_001137671.2
p.A119T
c.355G>A
3 papers
NM_001137671.2
p.H66R
c.197A>G
3 papers
NM_001137671.2
p.C72Y
c.215G>A
3 papers
NM_001137671.2
p.M166I
c.498G>T
3 papers
NM_001137671.2
p.M166I
c.498G>C
3 papers
NM_001137671.2
p.M166I
c.498G>A
3 papers
NM_001137671.2
p.K507E
c.1519A>G
2 papers
NM_001137671.2
p.T3A
c.7A>G
2 papers
NM_001137671.2
p.F28C
c.83T>G
2 papers
NM_001137671.2
p.K36R
c.107A>G
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