Varaico: Literature-Extracted Genetic Variants

Gene:BLM
Variant:p.C878R
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BLM

NM_000057.4:p.C878R

Associated Papers

The Pif1 signature motif of Pfh1 is necessary for both protein displacement and helicase unwinding activities, but is dispensable for strand-annealing activity.

Mohammad JB et al.

Nucleic Acids Research, 2018

Cellular defects caused by hypomorphic variants of the Bloom syndrome helicase gene BLM.

Shastri VM et al.

Molecular Genetics & Genomic Medicine, 2016

A novel frameshift mutation in BLM gene associated with high sister chromatid exchanges (SCE) in heterozygous family members.

Ben Salah G et al.

Molecular Biology Reports, 2014

Structure of human Bloom's syndrome helicase in complex with ADP and duplex DNA.

Swan MK et al.

Acta Crystallographica. Section D, Biological Crystallography, 2014

Structural and functional analyses of disease-causing missense mutations in Bloom syndrome protein.

Guo RB et al.

Nucleic Acids Research, 2007

High-resolution structure of the E.coli RecQ helicase catalytic core.

Bernstein DA et al.

The Embo Journal, 2003

RecQ helicases: suppressors of tumorigenesis and premature aging.

Bachrati CZ et al.

The Biochemical Journal, 2003

Identification of a novel BLM missense mutation (2706T>C) in a Moroccan patient with Bloom's syndrome.

Barakat A et al.

Human Mutation, 2000

Disease-causing missense mutations in human DNA helicase disorders.

Suhasini AN et al.

Mutation Research, 0

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