Varaico: Literature-Extracted Genetic Variants

Gene:SHH
Variant:p.E90A
Back to variants list

SHH

NM_000193.4:p.E90A

Associated Papers

Association of Sonic Hedgehog with the extracellular matrix requires its zinc-coordination center.

Jägers C et al.

Bmc Molecular and Cell Biology, 2021

Gain-of-function Shh mutants activate Smo cell-autonomously independent of Ptch1/2 function.

Casillas C et al.

Mechanisms of Development, 2018

Boc and Gas1 each form distinct Shh receptor complexes with Ptch1 and are required for Shh-mediated cell proliferation.

Izzi L et al.

Developmental Cell, 2011

Missense mutations in IHH impair Indian Hedgehog signaling in C3H10T1/2 cells: Implications for brachydactyly type A1, and new targets for Hedgehog signaling.

Guo S et al.

Cellular & Molecular Biology Letters, 2010

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."