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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PPP1R36

Variant:p.D23fs

PPP1R36

14q23.3 (UCSC)OMIM GTEx

25 papers

Pfam Domains

PPPI_inhibaa 62–413UCSCProtein phosphatase 1 inhibitor

Gene Aliases

HGNC Name

protein phosphatase 1 regulatory subunit 36

HGNC Previous Symbol

C14orf50

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr14:64550064 G>GN

NM_172365.3

p.D23fs

c.67_68fs

exact variant not in gnomAD23 overlapping SVs

Surrounding Variants

chr14:64552836 C>T

NM_172365.3

p.Q53*

c.157C>T

Exome: 0.0% (AC=187, hom=0)Genome: 0.0% (AC=14, hom=0)22 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."