Varaico: Literature-Extracted Genetic Variants

Gene:CC2D2B
Variant:p.K64E
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CC2D2B

NM_001349008.3:p.K64E

Associated Papers

The CC2D2B is a novel genetic modifier of the clinical phenotype in patients with hereditary angioedema due to C1 inhibitor deficiency.

Rupar N et al.

Gene, 2024

Whole exome sequencing and machine learning germline analysis of individuals presenting with extreme phenotypes of high and low risk of developing tobacco-associated lung adenocarcinoma.

Patiño-García A et al.

Ebiomedicine, 2024

38484556 (PubMed )
Supplement: mmc1.xlsx › Supp_Table_2

Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Cukier HN et al.

Npj Parkinson's Disease, 2022

35768426 (PubMed )
Supplement: 41531_2022_346_MOESM2_ESM.xlsx › SupTab1

A homozygous R148W mutation in Semaphorin 7A causes progressive familial intrahepatic cholestasis.

Pan Q et al.

Embo Molecular Medicine, 2021

34585848 (PubMed )
Supplement: EMMM-13-e14563-s004.pdf

Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing.

Samorodnitsky E et al.

Human Mutation, 2015

26110913 (PubMed )
Supplement: HUMU-36-903-s001.zip › humu22825-sup-00010-Table_S13.xlsx › Sheet1
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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."