Varaico: Literature-Extracted Genetic Variants

Gene:POTEE
Variant:p.D944D

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.D944D
c.2832T>C
Surrounding Variants
1 paper
NM_001083538.3
p.D944N
c.2830G>A
2 papers
NM_001083538.3
p.G951S
c.2851G>A
1 paper
NM_001083538.3
p.E937K
c.2809G>A
1 paper
NM_001083538.3
p.L936I
c.2806C>A
1 paper
NM_001083538.3
p.S935Y
c.2804C>A
1 paper
NM_001083538.3
p.A930A
c.2790G>A
1 paper
NM_001083538.3
p.E959K
c.2875G>A
7 papers
NM_001083538.3
p.T929T
c.2787G>A
2 papers
NM_001083538.3
p.A960A
c.2880G>A
1 paper
NM_001083538.3
p.M927L
c.2779A>C
1 paper
NM_001083538.3
p.M927L
c.2779A>T
1 paper
NM_001083538.3
p.E924K
c.2770G>A
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