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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PRTFDC1

Variant:p.G3A

PRTFDC1

10p12.1 (UCSC)OMIM PanelApp GTEx

24 papers

Pfam Domains

Pribosyltranaa 43–203UCSCPhosphoribosyl transferase domain

Gene Aliases

HGNC Name

phosphoribosyl transferase domain containing 1

HGNC Alias Symbol

HHGP

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr10:24952568 C>G

NM_020200.7

p.G3A

c.8G>C

Exome: 0.0% (AC=3, hom=0)Genome: n/a20 overlapping SVs

Surrounding Variants

chr10:24952573 C>T

NM_020200.7

p.M1I

c.3G>A

Exome: 1.3% (AC=18000, hom=151)Genome: 0.9% (AC=1432, hom=8)20 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."