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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GPCPD1

Variant:p.A21V

GPCPD1

20p12.3 (UCSC)OMIM GTEx

31 papers

Pfam Domains

CBM_20aa 3–101UCSCStarch binding domain

C2_GDE1aa 127–299UCSCGDE1-like C2 domain

GDPDaa 323–612UCSCGlycerophosphoryl diester phosphodiesterase family

Gene Aliases

HGNC Name

glycerophosphocholine phosphodiesterase 1

HGNC Alias Symbols

KIAA1434; GDE5; GDPD6

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr20:5598809 G>A

NM_019593.5

p.A21V

c.62C>T

Exome: 0.0% (AC=173, hom=2)Genome: 0.0% (AC=21, hom=0)15 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."