Varaico: Literature-Extracted Genetic Variants

Gene:POTEC
Variant:p.C221R

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
5 papers
NM_001137671.2
p.C221R
c.661T>C
Surrounding Variants
2 papers
NM_001137671.2
p.V214I
c.640G>A
1 paper
NM_001137671.2
p.A230T
c.688G>A
1 paper
NM_001137671.2
p.S267L
c.800C>T
1 paper
NM_001137671.2
p.S267*
c.800C>G
1 paper
NM_001137671.2
p.S267*
c.800C>A
1 paper
NM_001137671.2
p.G184R
c.550G>C
1 paper
NM_001137671.2
p.G184R
c.550G>A
1 paper
NM_001137671.2
p.G272G
c.816C>G
1 paper
NM_001137671.2
p.V280I
c.838G>A
1 paper
NM_001137671.2
p.K289I
c.866A>T
1 paper
NM_001137671.2
p.L298*
c.893T>G
1 paper
NM_001137671.2
p.L298*
c.893T>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."