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Article

Genome wide analysis of pathogenic SH2 domain mutations.

Proteins - 1 Aug 2008

Lappalainen Ilkka, Thusberg Janita, Shen Bairong, Vihinen Mauno

Abstract excerpt

The authors have made a genome-wide analysis of mutations in Src homology 2 (SH2) domains associated with human disease. Disease-causing mutations have been detected in the SH2 domains of cytoplasmic signaling proteins Bruton tyrosine kinase (BTK), SH2D1A, Ras GTPase activating protein (RasGAP), ZAP-70, SHP-2, STAT1, STAT5B, and the p85alpha subunit of the PIP3. Mutations in the BTK, SH2D1A, ZAP70, STAT1, and...

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Source

Identifiers

PMID: 18260110
DOI: 10.1002/prot.21970

Genes

BTK
STAT1
PTPN11
RASA1
ZAP70

Provenance

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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