Varaico: Literature-Extracted Genetic Variants

Gene:POTEE
Variant:p.D922Y

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
2 papers
NM_001083538.3
p.D922Y
c.2764G>T
Surrounding Variants
1 paper
NM_001083538.3
p.F923L
c.2767T>C
1 paper
NM_001083538.3
p.F923L
c.2769C>A
1 paper
NM_001083538.3
p.F923L
c.2769C>G
1 paper
NM_001083538.3
p.E924K
c.2770G>A
1 paper
NM_001083538.3
p.M927L
c.2779A>C
1 paper
NM_001083538.3
p.M927L
c.2779A>T
7 papers
NM_001083538.3
p.T929T
c.2787G>A
2 papers
NM_001083538.3
p.K913T
c.2738A>C
1 paper
NM_001083538.3
p.A930A
c.2790G>A
1 paper
NM_001083538.3
p.D911G
c.2732A>G
1 paper
NM_001083538.3
p.S935Y
c.2804C>A
1 paper
NM_001083538.3
p.L936I
c.2806C>A
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