Varaico: Literature-Extracted Genetic Variants

Gene:CDAN1
Variant:p.R714W
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CDAN1

NM_138477.4:p.R714W

Associated Papers

Anemia-associated mutations disrupt the CDIN1-Codanin1 complex in inherited congenital dyserythropoietic anemia I (CDA-I) disease.

Stojaspal M et al.

The Febs Journal, 2026

MMS22L is a novel key actor of normal and pathological erythropoiesis.

Colin E et al.

Hemasphere, 2025

Ropeginterferon alfa-2b as a promising alternative to conventional interferon in CDA type 1: a case report of two siblings.

Yang TW et al.

Clinical and Experimental Medicine, 2025

Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.

Wang H et al.

Scientific Reports, 2025

40604033 (PubMed )
Supplement: 41598_2025_8012_MOESM1_ESM.xlsx › S3

Severe Neonatal Anemia with Multi-Organ Failure, Extreme Placentomegaly, and Placental Megaloblastic Erythroblastosis as Features in Identifying Congenital Dyserythropoietic Anemia Type 1: A Case Report.

Roose O et al.

Neonatology, 2025

Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.

Cong PK et al.

Nature Communications, 2022

35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2

[Whole exome sequencing analysis of compound heterozygous variants of CDAN1 gene in a Chinese family with non-immune hydrops fetalis].

Wang Y et al.

Nan Fang Yi Ke Da Xue Xue Bao = Journal of Southern Medical University, 2021

Genetic and functional insights into CDA-I prevalence and pathogenesis.

Olijnik AA et al.

Journal of Medical Genetics, 2021

A complex comprising C15ORF41 and Codanin-1: the products of two genes mutated in congenital dyserythropoietic anaemia type I (CDA-I).

Shroff M et al.

The Biochemical Journal, 2020

Congenital dyserythropoiesis anemia type Ia with a novel CDAN1 mutation diagnosed by whole exome sequencing.

Lin PC et al.

Molecular Genetics & Genomic Medicine, 2020

Congenital dyserythropoietic anemia type I mimicking myelodysplasia syndrome with a novel CDAN1 mutation.

Lv X et al.

Annals of Hematology, 2020

The pathogenesis, diagnosis and management of congenital dyserythropoietic anaemia type I.

Roy NBA et al.

British Journal of Haematology, 2019

Fetal-onset Congenital Dyserythropoietic Anemia Type 1 due to a Novel Mutation With Severe Iron Overload and Severe Cholestatic Liver Disease.

Chin HL et al.

Journal of Pediatric Hematology/oncology, 2019

High-frequency actionable pathogenic exome variants in an average-risk cohort.

Rego S et al.

Cold Spring Harbor Molecular Case Studies, 2018

30487145 (PubMed )
Supplement: supp_mcs.a003178_Supplemental_File_1.xlsx › Sheet1

Clinical and genetic features of congenital dyserythropoietic anemia (CDA).

Moreno-Carralero MI et al.

European Journal of Haematology, 2018

Codanin-1, mutated in the anaemic disease CDAI, regulates Asf1 function in S-phase histone supply.

Ask K et al.

The Embo Journal, 2012

Fetal-onset congenital dyserythropoietic anemia type 1 due to CDAN1 mutations presenting as hydrops fetalis.

Liu S et al.

Pediatric Hematology and Oncology, 0

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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."