Varaico: Literature-Extracted Genetic Variants

Gene:POTEF
Variant:p.S113G

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
7 papers
NM_001099771.2
p.S113G
c.337A>G
Surrounding Variants
3 papers
NM_001099771.2
p.C105F
c.314G>T
1 paper
NM_001099771.2
p.G99D
c.296G>A
1 paper
NM_001099771.2
p.L94V
c.280C>G
1 paper
NM_001099771.2
p.V135I
c.403G>A
1 paper
NM_001099771.2
p.D87N
c.259G>A
1 paper
NM_001099771.2
p.D141Y
c.421G>T
1 paper
NM_001099771.2
p.A82A
c.246T>G
1 paper
NM_001099771.2
p.S75S
c.225T>C
1 paper
NM_001099771.2
p.V159I
c.475G>A
1 paper
NM_001099771.2
p.R66C
c.196C>T
1 paper
NM_001099771.2
p.L161F
c.481C>T
1 paper
NM_001099771.2
p.R162M
c.485G>T
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