Varaico: Literature-Extracted Genetic Variants

Gene:SHH
Variant:p.N115K
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SHH

NM_000193.4:p.N115K

Associated Papers

Structural basis for catalyzed assembly of the Sonic hedgehog-Patched1 signaling complex.

Huang P et al.

Developmental Cell, 2022

Two Patched molecules engage distinct sites on Hedgehog yielding a signaling-competent complex.

Qi X et al.

Science (new York, N.y.), 2018

The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis.

Roessler E et al.

Human Mutation, 2009

A sonic hedgehog missense mutation associated with holoprosencephaly causes defective binding to GAS1.

Martinelli DC et al.

The Journal of Biological Chemistry, 2009

Holoprosencephaly: clinical, anatomic, and molecular dimensions.

Cohen MM

Birth Defects Research. Part A, Clinical and Molecular Teratology, 2006

Molecular mechanisms of Sonic hedgehog mutant effects in holoprosencephaly.

Maity T et al.

Proceedings of the National Academy of Sciences of the United States of America, 2005

Functional characterization of sonic hedgehog mutations associated with holoprosencephaly.

Traiffort E et al.

The Journal of Biological Chemistry, 2004

Mutations in holoprosencephaly.

Wallis D et al.

Human Mutation, 2000

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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."