Varaico: Literature-Extracted Genetic Variants

Gene:POTEE
Variant:p.M744I

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
1 paper
NM_001083538.3
p.M744I
c.2232G>A
Surrounding Variants
1 paper
NM_001083538.3
p.M744I
c.2232G>C
1 paper
NM_001083538.3
p.M744I
c.2232G>T
1 paper
NM_001083538.3
p.Q749H
c.2247G>T
1 paper
NM_001083538.3
p.I734I
c.2202C>T
2 papers
NM_001083538.3
p.D725N
c.2173G>A
1 paper
NM_001083538.3
p.A719P
c.2155G>C
1 paper
NM_001083538.3
p.M716L
c.2146A>T
1 paper
NM_001083538.3
p.S714C
c.2141C>G
1 paper
NM_001083538.3
p.N712N
c.2136C>T
1 paper
NM_001083538.3
p.V707M
c.2119G>A
1 paper
NM_001083538.3
p.E783G
c.2348A>G
1 paper
NM_001083538.3
p.R795C
c.2383C>T
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