Varaico: Literature-Extracted Genetic Variants

Gene:POTEC
Variant:p.*543Q

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.*543Q
c.1627T>C
Surrounding Variants
1 paper
NM_001137671.2
p.D540Y
c.1618G>T
1 paper
NM_001137671.2
p.E519*
c.1555G>T
3 papers
NM_001137671.2
p.K507E
c.1519A>G
2 papers
NM_001137671.2
p.K506Q
c.1516A>C
1 paper
NM_001137671.2
p.A504V
c.1511C>T
1 paper
NM_001137671.2
p.E472K
c.1414G>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."