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Article

A Novel SHOC2 Variant in Rasopathy.

Human mutation - 1 Nov 2014

Hannig Vickie, Jeoung Myoungkun, Jang Eun Ryoung, Phillips John A, Galperin Emilia

Abstract excerpt

Rasopathies are a group of genetic disorders caused by germline mutations in multiple genes of the Extracellular signal-Regulated Kinases 1 and 2 (ERK1/2) pathway. The only previously identified missense mutation in SHOC2, a scaffold protein of the ERK1/2 pathway, led to Noonan-like syndrome with loose anagen hair. Here, we report a novel mutation in SHOC2(c.519G>A; p.M173I) that leads to a Rasopathy with...

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Identifiers

PMID: 25137548
DOI: 10.1002/humu.22634
PMCID: PMC4213265

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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