Varaico: Literature-Extracted Genetic Variants

Gene:POTEF
Variant:p.L259L

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.L259L
c.777C>G
Surrounding Variants
1 paper
NM_001099771.2
p.A246T
c.736G>A
1 paper
NM_001099771.2
p.Q217H
c.651G>T
1 paper
NM_001099771.2
p.Q217H
c.651G>C
1 paper
NM_001099771.2
p.K212_A213Splc
c.637-35A>G
1 paper
NM_001099771.2
p.K212_A213Splc
c.636+21T>A
1 paper
NM_001099771.2
p.K212_A213Splc
c.636+20A>G
1 paper
NM_001099771.2
p.K212_A213Splc
c.636+15A>C
11 papers
NM_001099771.2
p.I211T
c.632T>C
1 paper
NM_001099771.2
p.I211L
c.631A>T
1 paper
NM_001099771.2
p.I211L
c.631A>C
1 paper
NM_001099771.2
p.R207K
c.620G>A
1 paper
NM_001099771.2
p.Q198*
c.592C>T
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