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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PRR23D1

Variant:p.R38H

PRR23D1

8p23.1 (UCSC)GTEx

4 papers

Pfam Domains

DUF2476aa 4–276UCSCProtein of unknown function (DUF2476)

DUF2476aa 4–276UCSCProtein of unknown function (DUF2476)

Gene Aliases

HGNC Name

proline rich 23 domain containing 1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr8:7540680 G>A

NM_001282479.1

p.R38H

c.113G>A

Exome: 0.0% (AC=76, hom=0)Genome: 0.0% (AC=6, hom=0)19 overlapping SVs

Surrounding Variants

chr8:7541003 C>T

NM_001282479.1

p.S64F

c.191C>T

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=0, hom=0)19 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."