TRPC4
transient receptor potential cation channel subfamily C member 4
Summary
This gene encodes a member of the canonical subfamily of transient receptor potential cation channels. The encoded protein forms a non-selective calcium-permeable cation channel that is activated by Gq-coupled receptors and tyrosine kinases, and plays a role in multiple processes including endothelial permeability, vasodilation, neurotransmitter release and cell proliferation. Single nucleotide polymorphisms in this gene may be associated with generalized epilepsy with photosensitivity. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]
Known Variants44 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs731860 | 13:38,211,046 | T/C | — | benign |
| rs137894841 | 13:38,211,108 | T/C | — | uncertain significance |
| rs775168860 | 13:38,211,237 | C/T | — | uncertain significance |
| rs755167746 | 13:38,211,254 | A/T | — | uncertain significance |
| rs147399086 | 13:38,211,306 | C/T | — | uncertain significance |
| rs35836067 | 13:38,211,338 | G/T | — | uncertain significance |
| rs751793234 | 13:38,211,348 | C/G | — | uncertain significance |
| rs142683062 | 13:38,211,356 | C/T | — | uncertain significance |
| rs2542189686 | 13:38,211,401 | T/C | — | uncertain significance |
| rs2542190193 | 13:38,211,479 | T/C | — | uncertain significance |
| rs2542190771 | 13:38,211,552 | C/T | — | uncertain significance |
| rs140911831 | 13:38,211,671 | G/A | — | uncertain significance |
| rs774295967 | 13:38,211,695 | G/A | — | uncertain significance |
| rs2542198151 | 13:38,213,211 | T/C | — | uncertain significance |
| rs377547600 | 13:38,213,236 | C/T | — | uncertain significance |
| rs769126154 | 13:38,213,427 | C/T | — | uncertain significance |
| rs9547991 | 13:38,217,415 | T/C | intron variant | — |
| rs2542254186 | 13:38,225,430 | C/A | — | uncertain significance |
| rs2542255509 | 13:38,225,583 | A/G | — | uncertain significance |
| rs771983959 | 13:38,237,598 | G/A | — | uncertain significance |
| rs56312513 | 13:38,249,726 | C/G | — | — |
| rs1953729954 | 13:38,266,184 | C/T | — | uncertain significance |
| rs35069466 | 13:38,266,371 | A/G | — | benign |
| rs147415849 | 13:38,266,432 | C/T | — | uncertain significance |
| rs1372896727 | 13:38,266,445 | G/C | — | uncertain significance |
| rs978156 | 13:38,277,511 | C/T | intron variant | — |
| rs7319926 | 13:38,280,430 | A/G | intron variant | — |
| rs1366925427 | 13:38,320,094 | T/C | — | uncertain significance |
| rs1239748923 | 13:38,320,141 | A/G | — | uncertain significance |
| rs2500691750 | 13:38,320,172 | T/G | — | uncertain significance |
| rs144103505 | 13:38,320,196 | T/A | — | uncertain significance |
| rs200216544 | 13:38,320,234 | C/T | — | uncertain significance |
| rs193920981 | 13:38,320,448 | G/A | — | uncertain significance |
| rs80164537 | 13:38,320,594 | T/A | — | pathogenic |
| rs1956882712 | 13:38,357,220 | T/A | — | uncertain significance |
| rs2500927136 | 13:38,357,353 | C/T | — | uncertain significance |
| rs1003174918 | 13:38,357,430 | T/C | — | uncertain significance |
| rs2500930266 | 13:38,357,460 | A/G | — | uncertain significance |
| rs4264267 | 13:38,359,676 | C/T | intron variant | — |
| rs4460944 | 13:38,359,684 | T/C | intron variant | — |
| rs9548050 | 13:38,363,450 | A/T | — | — |
| rs1337602 | 13:38,423,005 | T/C | intron variant | — |
| rs540663062 | 13:38,442,939 | A/G | — | — |
| rs1538146 | 13:38,445,288 | A/C | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.