Varaico: Literature-Extracted Genetic Variants

Gene:POTEC
Variant:p.H66R

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
3 papers
NM_001137671.2
p.H66R
c.197A>G
Surrounding Variants
1 paper
NM_001137671.2
p.P70L
c.209C>T
1 paper
NM_001137671.2
p.M61I
c.183G>T
1 paper
NM_001137671.2
p.M61I
c.183G>C
1 paper
NM_001137671.2
p.M61I
c.183G>A
3 papers
NM_001137671.2
p.C72Y
c.215G>A
1 paper
NM_001137671.2
p.S59N
c.176G>A
2 papers
NM_001137671.2
p.M56T
c.167T>C
1 paper
NM_001137671.2
p.G76D
c.227G>A
1 paper
NM_001137671.2
p.M56fs
c.166_167fs
1 paper
NM_001137671.2
p.V80L
c.238G>T
1 paper
NM_001137671.2
p.V80L
c.238G>C
4 papers
NM_001137671.2
p.K40M
c.119A>T
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