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Table 2 Germline variants related to calcium metabolism

From: Metastatic colorectal cancer and severe hypocalcemia following irinotecan administration in a patient with X-linked agammaglobulinemia: a case report

SNP ID Gene Chrs Gene Region Function Calcium-related function or diseases
p.F114delX115 BTK X exonic nonsynonymous SNV Induces calcium mobilization and calcium-mediated signaling.
rs202054008 CACNA2D4 4 exonic nonsynonymous SNV Regulates calcium current density and activation/inactivation of calcium channels
rs75326924 CD36 3 exonic nonsynonymous SNV Regulates intracellular calcium levels by long-chain fatty acids.
rs2229291 CPT2 15 splicing NA Calcium metabolism and abnormal calcium deposition.
rs3888798 CTSC X exonic frameshift deletion Deposition of calcium salts in a tissue or location in which calcification does not normally occur.
rs147630160 CXCL16 10 exonic nonsynonymous SNV Induces calcium mobilization.
rs117643139 DRD2 4 exonic nonsynonymous SNV Pituitary adenoma-related hypokalemia and hypocalcemia [42]
rs139997095 PKD1L2 7 exonic nonsynonymous SNV Calcium ion transmembrane transport.
rs201550522 PRSS1 6 exonic nonsynonymous SNV Deposition of calcium salts in a tissue or location in which calcification does not normally occur.
rs201533738 SLX4 7 exonic nonsynonymous SNV Calcium metabolism.
rs182693954 TRPV1 12 exonic nonsynonymous SNV Ligand-activated nonselective calcium permeant cation channel involved in the detection of noxious chemical and thermal stimuli.