Varaico: Literature-Extracted Genetic Variants

Gene:POTED

POTED

76 papers

Pfam Domains

Ank_2aa 143–236UCSCAnkyrin repeats (3 copies)
Ank_2aa 203–269UCSCAnkyrin repeats (3 copies)
Ank_2aa 243–335UCSCAnkyrin repeats (3 copies)
CCDC144Caa 457–584UCSCCCDC144C protein coiled-coil region

Gene Aliases

HGNC Name

POTE ankyrin domain family member D

HGNC Previous Symbols

ANKRD21; A26B3

Papers
RefSeq ID
Protein change
DNA change
1–12 of 68 variants
8 papers
NM_174981.6
p.H244Y
c.730C>T
7 papers
NM_174981.6
p.I135V
c.403A>G
7 papers
NM_174981.6
p.M535V
c.1603A>G
6 papers
NM_174981.6
p.D264Y
c.790G>T
5 papers
NM_174981.6
p.E172Q
c.514G>C
4 papers
NM_174981.6
p.M43V
c.127A>G
4 papers
NM_174981.6
p.G113S
c.337G>A
3 papers
NM_174981.6
p.M43L
c.127A>T
2 papers
NM_174981.6
p.H30D
c.88C>G
2 papers
NM_174981.6
p.M56T
c.167T>C
2 papers
NM_174981.6
p.R132G
c.394A>G
2 papers
NM_174981.6
p.R137*
c.409C>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."