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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:POTEB3

Variant:p.K511E

POTEB3

15q11.2 (UCSC)GTEx

18 papers

Pfam Domains

Ank_2aa 143–236UCSCAnkyrin repeats (3 copies)

Ank_2aa 243–335UCSCAnkyrin repeats (3 copies)

CCDC144Caa 461–581UCSCCCDC144C protein coiled-coil region

Gene Aliases

HGNC Name

POTE ankyrin domain family member B3

HGNC Previous Name

POTE ankyrin domain family, member B3

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr15:21410880 T>C

NM_207355.5

p.K511E

c.1531A>G

Exome: 0.0% (AC=40, hom=9)Genome: 0.1% (AC=83, hom=0)5 overlapping SVs

Surrounding Variants

chr15:21409027 C>T

NM_207355.5

p.A568T

c.1702G>A

Exome: 0.0% (AC=2, hom=0)Genome: 0.0% (AC=0, hom=0)5 overlapping SVs

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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."