Varaico: Literature-Extracted Genetic Variants

Gene:POTEF
Variant:p.G745G

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.G745G
c.2235G>A
Surrounding Variants
1 paper
NM_001099771.2
p.S752F
c.2255C>T
2 papers
NM_001099771.2
p.P738A
c.2212C>G
1 paper
NM_001099771.2
p.R737H
c.2210G>A
1 paper
NM_001099771.2
p.G736A
c.2207G>C
1 paper
NM_001099771.2
p.I734V
c.2200A>G
1 paper
NM_001099771.2
p.P732R
c.2195C>G
1 paper
NM_001099771.2
p.T766A
c.2296A>G
1 paper
NM_001099771.2
p.D725N
c.2173G>A
1 paper
NM_001099771.2
p.D724D
c.2172C>T
1 paper
NM_001099771.2
p.D724N
c.2170G>A
1 paper
NM_001099771.2
p.K768T
c.2303A>C
1 paper
NM_001099771.2
p.M771I
c.2313G>T
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