Varaico: Literature-Extracted Genetic Variants

Gene:POTEE
Variant:p.R896H

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
Selected Variant
3 papers
NM_001083538.3
p.R896H
c.2687G>A
Surrounding Variants
1 paper
NM_001083538.3
p.R899K
c.2696G>A
1 paper
NM_001083538.3
p.F900S
c.2699T>C
1 paper
NM_001083538.3
p.I892V
c.2674A>G
1 paper
NM_001083538.3
p.D887E
c.2661C>A
1 paper
NM_001083538.3
p.D887E
c.2661C>G
1 paper
NM_001083538.3
p.D887Y
c.2659G>T
1 paper
NM_001083538.3
p.R906Q
c.2717G>A
1 paper
NM_001083538.3
p.D911G
c.2732A>G
2 papers
NM_001083538.3
p.K913T
c.2738A>C
2 papers
NM_001083538.3
p.H873N
c.2617C>A
2 papers
NM_001083538.3
p.D922Y
c.2764G>T
1 paper
NM_001083538.3
p.F923L
c.2767T>C
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