Varaico: Literature-Extracted Genetic Variants

Gene:POTEF
Variant:p.C29Y

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.C29Y
c.86G>A
Surrounding Variants
1 paper
NM_001099771.2
p.M24I
c.72G>T
1 paper
NM_001099771.2
p.M24I
c.72G>C
1 paper
NM_001099771.2
p.M24I
c.72G>A
1 paper
NM_001099771.2
p.C35Y
c.104G>A
1 paper
NM_001099771.2
p.K40M
c.119A>T
1 paper
NM_001099771.2
p.T45A
c.133A>G
2 papers
NM_001099771.2
p.A11P
c.31G>C
1 paper
NM_001099771.2
p.D51N
c.151G>A
1 paper
NM_001099771.2
p.V3F
c.7G>T
1 paper
NM_001099771.2
p.S59N
c.176G>A
1 paper
NM_001099771.2
p.K60N
c.180G>T
1 paper
NM_001099771.2
p.K60N
c.180G>C
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