Varaico: Literature-Extracted Genetic Variants

Gene:POTEE
Variant:p.R795H

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.R795H
c.2384G>A
Surrounding Variants
1 paper
NM_001083538.3
p.R795C
c.2383C>T
1 paper
NM_001083538.3
p.V796_I803del8
c.2386_2408del24
1 paper
NM_001083538.3
p.V796_I803delFs
c.2387_2409del23
1 paper
NM_001083538.3
p.E799*
c.2395G>T
3 papers
NM_001083538.3
p.I803V
c.2407A>G
3 papers
NM_001083538.3
p.I803M
c.2409C>G
1 paper
NM_001083538.3
p.T806T
c.2418C>A
1 paper
NM_001083538.3
p.E783G
c.2348A>G
3 papers
NM_001083538.3
p.P812R
c.2435C>G
7 papers
NM_001083538.3
p.R816H
c.2447G>A
3 papers
NM_001083538.3
p.P840L
c.2519C>T
1 paper
NM_001083538.3
p.Q749H
c.2247G>T
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