Varaico: Literature-Extracted Genetic Variants

Gene:POTED
Variant:p.M535K

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
Selected Variant
1 paper
NM_174981.6
p.M535K
c.1604T>A
Surrounding Variants
7 papers
NM_174981.6
p.M535V
c.1603A>G
2 papers
NM_174981.6
p.Q530R
c.1589A>G
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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."