Varaico: Literature-Extracted Genetic Variants

Gene:FANCA
Variant:p.H1110P
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FANCA

NM_000135.4:p.H1110P

Associated Papers

Structural basis of the fanconi anemia-associated mutations within the FANCA and FANCG complex.

Jeong E et al.

Nucleic Acids Research, 2020

Fanconi anemia A is a nucleocytoplasmic shuttling molecule required for gonadotropin-releasing hormone (GnRH) transduction of the GnRH receptor.

Larder R et al.

Endocrinology, 2006

The Fanconi anemia gene network is conserved from zebrafish to human.

Titus TA et al.

Gene, 2006

Heterogeneous activation of the Fanconi anemia pathway by patient-derived FANCA mutants.

Adachi D et al.

Human Molecular Genetics, 2002

A cytoplasmic serine protein kinase binds and may regulate the Fanconi anemia protein FANCA.

Yagasaki H et al.

Blood, 2001

Functional analysis of patient-derived mutations in the Fanconi anemia gene, FANCG/XRCC9.

Nakanishi K et al.

Experimental Hematology, 2001

The emerging genetic and molecular basis of Fanconi anaemia.

Joenje H et al.

Nature Reviews. Genetics, 2001

The Fanconi anemia protein FANCF forms a nuclear complex with FANCA, FANCC and FANCG.

de Winter JP et al.

Human Molecular Genetics, 2000

High frequency of large intragenic deletions in the Fanconi anemia group A gene.

Morgan NV et al.

American Journal of Human Genetics, 1999

A physical complex of the Fanconi anemia proteins FANCG/XRCC9 and FANCA.

Waisfisz Q et al.

Proceedings of the National Academy of Sciences of the United States of America, 1999

Fanconi anemia proteins FANCA, FANCC, and FANCG/XRCC9 interact in a functional nuclear complex.

Garcia-Higuera I et al.

Molecular and Cellular Biology, 1999

A patient-derived mutant form of the Fanconi anemia protein, FANCA, is defective in nuclear accumulation.

Kupfer G et al.

Experimental Hematology, 1999

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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."