Varaico: Literature-Extracted Genetic Variants

Gene:POTEF
Variant:p.Q1053*

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.Q1053*
c.3157C>T
Surrounding Variants
1 paper
NM_001099771.2
p.W1040*
c.3120G>A
1 paper
NM_001099771.2
p.W1040*
c.3119G>A
5 papers
NM_001099771.2
p.V1039M
c.3115G>A
1 paper
NM_001099771.2
p.G973D
c.2918G>A
5 papers
NM_001099771.2
p.R954W
c.2860C>T
1 paper
NM_001099771.2
p.N952N
c.2856C>T
1 paper
NM_001099771.2
p.E937G
c.2810A>G
5 papers
NM_001099771.2
p.V930A
c.2789T>C
1 paper
NM_001099771.2
p.D922H
c.2764G>C
4 papers
NM_001099771.2
p.Y918F
c.2753A>T
1 paper
NM_001099771.2
p.E914*
c.2740G>T
1 paper
NM_001099771.2
p.V909M
c.2725G>A
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