Varaico: Literature-Extracted Genetic Variants

Gene:CPOX
Variant:p.H295D
Back to variants list

CPOX

NM_000097.7:p.H295D

Associated Papers

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C

MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.

Fukasawa Y et al.

Molecular & Cellular Proteomics : Mcp, 2015

25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9A

Hereditary coproporphyria.

Martásek P

Seminars in Liver Disease, 1998

Three novel mutations in the coproporphyrinogen oxidase gene.

Lamoril J et al.

Human Mutation, 1997

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."