LCK Chromosome 1

LCK proto-oncogene, Src family tyrosine kinase
13 variants 13 Health Risk

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What This Gene Does
This gene is a member of the Src family of protein tyrosine kinases (PTKs). The encoded protein is a key signaling molecule in the selection and maturation of developing T-cells. It contains N-terminal sites for myristylation and palmitylation, a PTK domain, and SH2 and SH3 domains which are involved in mediating protein-protein interactions with phosphotyrosine-containing and proline-rich motifs, respectively. The protein localizes to the plasma membrane and pericentrosomal vesicles, and binds to cell surface receptors, including CD4 and CD8, and other signaling molecules. Multiple alternatively spliced variants encoding different isoforms have been described. [provided by RefSeq, Aug 2016]
Gene Info
Gene Group
"SH2 domain containing|Src family tyrosine kinases"
Locus Type
gene with protein product
Location
1p35.2
Ensembl
ENSG00000182866
Associated Conditions (7)
Severe combined immunodeficiency due to LCK deficiency
LCK-related disorder
Malignant tumor of esophagus
Lung cancer
Melanoma
Acute myeloid leukemia
Severe combined immunodeficiency disease
Key Variants
RS11567841
Conflicting classifications of pathogenicity
Severe combined immunodeficiency due to LCK deficiency, LCK-related disorder, Malignant tumor of esophagus
Health Risk
RS1569967422
Likely pathogenic
Severe combined immunodeficiency due to LCK deficiency, Severe combined immunodeficiency due to LCK deficiency
Health Risk
RS1640240931
Likely pathogenic
Severe combined immunodeficiency due to LCK deficiency, Severe combined immunodeficiency due to LCK deficiency
Health Risk
RS2521644688
Likely pathogenic
Severe combined immunodeficiency disease, Severe combined immunodeficiency disease
Health Risk
RS1318678254
Pathogenic
Severe combined immunodeficiency due to LCK deficiency, Severe combined immunodeficiency due to LCK deficiency
Health Risk
RS1640237880
Pathogenic
Severe combined immunodeficiency due to LCK deficiency, Severe combined immunodeficiency due to LCK deficiency
Health Risk
RS1640406042
Pathogenic
Severe combined immunodeficiency due to LCK deficiency, Severe combined immunodeficiency due to LCK deficiency
Health Risk
RS2124355238
Pathogenic
Severe combined immunodeficiency due to LCK deficiency, Severe combined immunodeficiency due to LCK deficiency
Health Risk
RS2521638529
Pathogenic
Severe combined immunodeficiency due to LCK deficiency, Severe combined immunodeficiency due to LCK deficiency
Health Risk
RS2521643296
Pathogenic
Severe combined immunodeficiency due to LCK deficiency, Severe combined immunodeficiency due to LCK deficiency
Health Risk
RS2521697784
Pathogenic
Severe combined immunodeficiency due to LCK deficiency, Severe combined immunodeficiency due to LCK deficiency
Health Risk
RS2521748820
Pathogenic
Severe combined immunodeficiency due to LCK deficiency, Severe combined immunodeficiency due to LCK deficiency
Health Risk
All Variants (13)
RSID Category Clinical Significance Conditions
RS11567841 Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to LCK deficiency, LCK-related disorder, Malignant tumor of esophagus
RS1569967422 Health Risk Likely pathogenic Severe combined immunodeficiency due to LCK deficiency, Severe combined immunodeficiency due to LCK deficiency
RS1640240931 Health Risk Likely pathogenic Severe combined immunodeficiency due to LCK deficiency, Severe combined immunodeficiency due to LCK deficiency
RS2521644688 Health Risk Likely pathogenic Severe combined immunodeficiency disease, Severe combined immunodeficiency disease
RS1318678254 Health Risk Pathogenic Severe combined immunodeficiency due to LCK deficiency, Severe combined immunodeficiency due to LCK deficiency
RS1640237880 Health Risk Pathogenic Severe combined immunodeficiency due to LCK deficiency, Severe combined immunodeficiency due to LCK deficiency
RS1640406042 Health Risk Pathogenic Severe combined immunodeficiency due to LCK deficiency, Severe combined immunodeficiency due to LCK deficiency
RS2124355238 Health Risk Pathogenic Severe combined immunodeficiency due to LCK deficiency, Severe combined immunodeficiency due to LCK deficiency
RS2521638529 Health Risk Pathogenic Severe combined immunodeficiency due to LCK deficiency, Severe combined immunodeficiency due to LCK deficiency
RS2521643296 Health Risk Pathogenic Severe combined immunodeficiency due to LCK deficiency, Severe combined immunodeficiency due to LCK deficiency
RS2521697784 Health Risk Pathogenic Severe combined immunodeficiency due to LCK deficiency, Severe combined immunodeficiency due to LCK deficiency
RS2521748820 Health Risk Pathogenic Severe combined immunodeficiency due to LCK deficiency, Severe combined immunodeficiency due to LCK deficiency
RS587777335 Health Risk Pathogenic Severe combined immunodeficiency due to LCK deficiency, Severe combined immunodeficiency due to LCK deficiency
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