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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:POTEI

Variant:p.T454S

POTEI

2q21.1 (UCSC)GTEx

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr2:130488081 T>A

NM_001277406.2

p.T454S

c.1360A>T

exact variant not in gnomAD145 overlapping SVs

Surrounding Variants

chr2:130488140 C>G

NM_001277406.2

p.S434T

c.1301G>C

Exome: 93.0% (AC=236303, hom=112020)Genome: 77.9% (AC=31080, hom=12819)144 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."