Varaico: Literature-Extracted Genetic Variants

Gene:POTEF

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
1–12 of 108 variants
11 papers
NM_001099771.2
p.I211T
c.632T>C
8 papers
NM_001099771.2
p.E867D
c.2601G>T
7 papers
NM_001099771.2
p.S113G
c.337A>G
7 papers
NM_001099771.2
p.E867D
c.2601G>C
5 papers
NM_001099771.2
p.V930A
c.2789T>C
5 papers
NM_001099771.2
p.R954W
c.2860C>T
5 papers
NM_001099771.2
p.V1039M
c.3115G>A
4 papers
NM_001099771.2
p.R816H
c.2447G>A
4 papers
NM_001099771.2
p.Y918F
c.2753A>T
3 papers
NM_001099771.2
p.C105F
c.314G>T
3 papers
NM_001099771.2
p.I292I
c.876T>C
3 papers
NM_001099771.2
p.K674N
c.2022G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."