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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CPXM2

Variant:p.R272C

CPXM2

10q26.13 (UCSC)OMIM GTEx

101 papers

Pfam Domains

F5_F8_type_Caa 150–290UCSCF5/8 type C domain

Peptidase_M14aa 324–632UCSCZinc carboxypeptidase

CarboxypepD_regaa 643–719UCSCCarboxypeptidase regulatory-like domain

Gene Aliases

HGNC Name

carboxypeptidase X, M14 family member 2

HGNC Alias Symbols

UNQ676; CPX2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr10:123798051 G>A

NM_198148.3

p.R272C

c.814C>T

Exome: 0.0% (AC=261, hom=2)Genome: 0.0% (AC=35, hom=0)11 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."