CNKSR1 Chromosome 1
Connector enhancer of kinase suppressor of Ras 1
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What This Gene Does
This gene encodes a protein containing several motifs involved in protein-protein interaction, including PDZ, PH (Pleckstrin homology), and SAM (sterile alpha motif) domains. The encoded protein acts as a scaffold component for receptor tyrosine kinase signaling and may mediate crosstalk between different signaling pathways. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
Gene Info
Gene Group
"Pleckstrin homology domain containing|Sterile alpha motif domain containing|PDZ domain containing"
Locus Type
gene with protein product
Location
1p36.11
Ensembl
ENSG00000142675
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140239583 | Health Risk | Conflicting classifications of pathogenicity | — |