Varaico: Literature-Extracted Genetic Variants

Gene:CCHCR1
Variant:p.W78*
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CCHCR1

NM_001105564.2:p.W78*

Associated Papers

Clinicopathological and molecular characterization of KRAS wild-type pancreatic ductal adenocarcinomas reveals precursor lesions with oncogenic mutations and fusions in RAS pathway genes.

Toriyama K et al.

The Journal of Pathology, 2025

40317966 (PubMed )
Supplement: PATH-266-337-s002.zip › path6432-sup-0004-TableS4.xlsx › PDAC-001

Genomic alterations in normal breast tissues preceding breast cancer diagnosis.

Dai J et al.

Breast Cancer Research : Bcr, 2025

40264151 (PubMed )
Supplement: 13058_2025_2018_MOESM1_ESM.xlsx › Table_S1

rs67047829 genotypes of ERV3-1/ZNF117 are associated with lower body mass index in the Polish population.

Clark JSC et al.

Scientific Reports, 2023

37816715 (PubMed )
Supplement: 41598_2023_43323_MOESM1_ESM.xlsx › Sheet1

Analysis of Glucocorticoid-Related Genes Reveal CCHCR1 as a New Candidate Gene for Type 2 Diabetes.

Brenner LN et al.

Journal of the Endocrine Society, 2020

Discovery of 318 new risk loci for type 2 diabetes and related vascular outcomes among 1.4 million participants in a multi-ancestry meta-analysis.

Vujkovic M et al.

Nature Genetics, 2020

Alopecia areata susceptibility variant in MHC region impacts expressions of genes contributing to hair keratinization and is involved in hair loss.

Oka A et al.

Ebiomedicine, 2020

32580135 (PubMed )
Supplement: mmc1.pdf

Identification of a novel germline frameshift mutation p.D300fs of PMS1 in a patient with hepatocellular carcinoma: A case report and literature review.

Li X et al.

Medicine, 2020

32000458 (PubMed )
Supplement: medi-99-e19076-s002.xlsx › Supp_Table2._somatic_SNVs

Analysis of predicted loss-of-function variants in UK Biobank identifies variants protective for disease.

Emdin CA et al.

Nature Communications, 2018

29691411 (PubMed )
Supplement: 41467_2018_3911_MOESM1_ESM.pdf

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A2-A0CT-01A.domain
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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."