Varaico: Literature-Extracted Genetic Variants

Gene:POTEF
Variant:p.E799E

POTEF

110 papers

Pfam Domains

Ank_2aa 143–236UCSCAnkyrin repeats (3 copies)
Ank_2aa 243–335UCSCAnkyrin repeats (3 copies)
Ank_2aa 297–368UCSCAnkyrin repeats (3 copies)
CCDC144Caa 585–708UCSCCCDC144C protein coiled-coil region
Actinaa 702–1075UCSCActin

Gene Aliases

HGNC Name

POTE ankyrin domain family member F

HGNC Previous Symbol

A26C1B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001099771.2
p.E799E
c.2397G>A
Surrounding Variants
1 paper
NM_001099771.2
p.A797T
c.2389G>A
2 papers
NM_001099771.2
p.V803I
c.2407G>A
3 papers
NM_001099771.2
p.E793K
c.2377G>A
1 paper
NM_001099771.2
p.N792N
c.2376C>T
4 papers
NM_001099771.2
p.R816H
c.2447G>A
1 paper
NM_001099771.2
p.D780N
c.2338G>A
1 paper
NM_001099771.2
p.M771I
c.2313G>T
1 paper
NM_001099771.2
p.M771I
c.2313G>C
1 paper
NM_001099771.2
p.M771I
c.2313G>A
1 paper
NM_001099771.2
p.K768T
c.2303A>C
1 paper
NM_001099771.2
p.T766A
c.2296A>G
2 papers
NM_001099771.2
p.V834M
c.2500G>A
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