Varaico: Literature-Extracted Genetic Variants

Gene:POTEE

POTEE

114 papers

Pfam Domains

Ank_2aa 143–236UCSCAnkyrin repeats (3 copies)
Ank_2aa 243–335UCSCAnkyrin repeats (3 copies)
Ank_2aa 302–368UCSCAnkyrin repeats (3 copies)
CCDC144Caa 585–708UCSCCCDC144C protein coiled-coil region
Actinaa 702–1075UCSCActin

Gene Aliases

HGNC Name

POTE ankyrin domain family member E

HGNC Previous Symbol

A26C1A

Papers
RefSeq ID
Protein change
DNA change
1–12 of 125 variants
10 papers
NM_001083538.3
p.G973D
c.2918G>A
7 papers
NM_001083538.3
p.R816H
c.2447G>A
7 papers
NM_001083538.3
p.T929T
c.2787G>A
5 papers
NM_001083538.3
p.E867D
c.2601G>C
5 papers
NM_001083538.3
p.E867D
c.2601G>T
3 papers
NM_001083538.3
p.N96S
c.287A>G
3 papers
NM_001083538.3
p.S126S
c.378C>T
3 papers
NM_001083538.3
p.M665I
c.1995G>A
3 papers
NM_001083538.3
p.I803V
c.2407A>G
3 papers
NM_001083538.3
p.I803M
c.2409C>G
3 papers
NM_001083538.3
p.P812R
c.2435C>G
3 papers
NM_001083538.3
p.P840L
c.2519C>T
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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."