Varaico: Literature-Extracted Genetic Variants

Gene:SHH
Variant:p.C24S
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SHH

NM_000193.4:p.C24S

Associated Papers

The morphogen Sonic hedgehog inhibits its receptor Patched by a pincer grasp mechanism.

Rudolf AF et al.

Nature Chemical Biology, 2019

SHH E176/E177-Zn2+ conformation is required for signaling at endogenous sites.

Himmelstein DS et al.

Developmental Biology, 2017

Sonic hedgehog mutations identified in holoprosencephaly patients can act in a dominant negative manner.

Singh S et al.

Human Genetics, 2009

Hhat is a palmitoylacyltransferase with specificity for N-palmitoylation of Sonic Hedgehog.

Buglino JA et al.

The Journal of Biological Chemistry, 2008

Functional antagonists of sonic hedgehog reveal the importance of the N terminus for activity.

Williams KP et al.

Journal of Cell Science, 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."