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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PPM1H

Variant:p.R122W

PPM1H

12q14.1-q14.2 (UCSC)OMIM GTEx

51 papers

Pfam Domains

PP2Caa 221–321UCSCProtein phosphatase 2C

PP2Caa 366–480UCSCProtein phosphatase 2C

Gene Aliases

HGNC Name

protein phosphatase, Mg2+/Mn2+ dependent 1H

HGNC Previous Symbol

ARHCL1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr12:62832161 G>A

NM_020700.2

p.R122W

c.364C>T

Exome: 0.0% (AC=51, hom=0)Genome: 0.0% (AC=3, hom=0)30 overlapping SVs

Surrounding Variants

chr12:62832155 A>C

NM_020700.2

p.S124A

c.370T>G

exact variant not in gnomAD30 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."