Varaico: Literature-Extracted Genetic Variants

Gene:ABCB7
Variant:p.I400M
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ABCB7

NM_001271696.3:p.I400M

Associated Papers

ATP-Binding Cassette Transporter of Clinical Significance: Sideroblastic Anemia.

Ogunbileje JO et al.

Journal of Personalized Medicine, 2024

Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.

Molnár J et al.

Plos One, 2016

26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › disease

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

Crystal structures of nucleotide-free and glutathione-bound mitochondrial ABC transporter Atm1.

Srinivasan V et al.

Science (new York, N.y.), 2014

Disruption of the ATP-binding cassette B7 (ABTM-1/ABCB7) induces oxidative stress and premature cell death in Caenorhabditis elegans.

González-Cabo P et al.

The Journal of Biological Chemistry, 2011

Phenotype prediction of non-synonymous single-nucleotide polymorphisms in human ATP-binding cassette transporter genes.

Wang LL et al.

Basic & Clinical Pharmacology & Toxicology, 2011

Human iron-sulfur cluster assembly, cellular iron homeostasis, and disease.

Ye H et al.

Biochemistry, 2010

Iron-sulfur proteins in health and disease.

Sheftel A et al.

Trends in Endocrinology and Metabolism: Tem, 2010

RNA silencing of the mitochondrial ABCB7 transporter in HeLa cells causes an iron-deficient phenotype with mitochondrial iron overload.

Cavadini P et al.

Blood, 2007

X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L.

Maguire A et al.

British Journal of Haematology, 2001

An inventory of the human ABC proteins.

Klein I et al.

Biochimica Et Biophysica Acta, 1999

Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A).

Allikmets R et al.

Human Molecular Genetics, 1999

X-linked sideroblastic anemia and ataxia: linkage to phosphoglycerate kinase at Xq13.

Raskind WH et al.

American Journal of Human Genetics, 1991

Clinical and biochemical genetics of the lipidoses.

Kolodny EH

Seminars in Hematology, 1972

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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."