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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PLGRKT

Variant:p.M13V

PLGRKT

9p24.1 (UCSC)OMIM GTEx

16 papers

Pfam Domains

DUF2368aa 1–134UCSCUncharacterised conserved protein (DUF2368)

Gene Aliases

HGNC Name

plasminogen receptor with a C-terminal lysine

HGNC Previous Symbol

C9orf46

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr9:5431941 T>C

NM_018465.4

p.M13V

c.37A>G

Exome: 0.0% (AC=10, hom=0)Genome: 0.0% (AC=7, hom=0)14 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."