Varaico: Literature-Extracted Genetic Variants

Gene:POTEI
Variant:p.R573K

POTEI

41 papers

Pfam Domains

Ank_2aa 143–236UCSCAnkyrin repeats (3 copies)
Ank_2aa 243–335UCSCAnkyrin repeats (3 copies)
Ank_2aa 304–368UCSCAnkyrin repeats (3 copies)
CCDC144Caa 585–708UCSCCCDC144C protein coiled-coil region
Actinaa 702–1075UCSCActin

Gene Aliases

HGNC Name

POTE ankyrin domain family member I

HGNC Alias Symbol

POTE2beta

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_001277406.2
p.R573K
c.1718G>A
Surrounding Variants
1 paper
NM_001277406.2
p.G559A
c.1676G>C
1 paper
NM_001277406.2
p.S593Splc
c.1778+5G>A
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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."