Varaico: Literature-Extracted Genetic Variants

Gene:POTEC
Variant:p.S38R

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.S38R
c.112A>C
Surrounding Variants
1 paper
NM_001137671.2
p.S38R
c.114C>G
1 paper
NM_001137671.2
p.S38R
c.114C>A
2 papers
NM_001137671.2
p.K36R
c.107A>G
4 papers
NM_001137671.2
p.K40M
c.119A>T
1 paper
NM_001137671.2
p.K23_H30delFs
c.69_90del22
2 papers
NM_001137671.2
p.F28C
c.83T>G
1 paper
NM_001137671.2
p.K26K
c.78G>A
1 paper
NM_001137671.2
p.K23fs
c.67_68fs
1 paper
NM_001137671.2
p.M56fs
c.166_167fs
2 papers
NM_001137671.2
p.M56T
c.167T>C
1 paper
NM_001137671.2
p.S59N
c.176G>A
1 paper
NM_001137671.2
p.K16K
c.48G>A
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