TRPV5
transient receptor potential cation channel subfamily V member 5
Summary
This gene is a member of the transient receptor family and the TrpV subfamily. The calcium-selective channel encoded by this gene has 6 transmembrane-spanning domains, multiple potential phosphorylation sites, an N-linked glycosylation site, and 5 ANK repeats. This protein forms homotetramers or heterotetramers and is activated by a low internal calcium level. [provided by RefSeq, Jul 2008]
Known Variants58 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2486260504 | 7:142,605,700 | C/T | — | uncertain significance |
| rs140536668 | 7:142,605,741 | C/T | — | uncertain significance |
| rs150154828 | 7:142,605,795 | G/A | — | uncertain significance |
| rs200440258 | 7:142,605,828 | A/G | — | likely benign |
| rs201599080 | 7:142,605,859 | C/T | — | likely benign |
| rs267601353 | 7:142,605,901 | C/T | — | uncertain significance |
| rs387907541 | 7:142,605,902 | C/T | — | uncertain significance |
| rs769744626 | 7:142,605,942 | C/T | — | uncertain significance |
| rs387907543 | 7:142,606,722 | C/T | — | uncertain significance |
| rs369644548 | 7:142,606,759 | C/T | — | pathogenic |
| rs781345251 | 7:142,606,761 | A/G | — | uncertain significance |
| rs4252499 | 7:142,609,749 | C/C | — | benign |
| rs139430146 | 7:142,609,755 | C/G | — | uncertain significance |
| rs61745282 | 7:142,612,106 | A/G | — | uncertain significance |
| rs148272264 | 7:142,612,107 | T/C | — | uncertain significance |
| rs748185106 | 7:142,612,121 | C/T | — | uncertain significance |
| rs2486273143 | 7:142,612,486 | T/C | — | uncertain significance |
| rs150345829 | 7:142,612,522 | C/T | — | uncertain significance |
| rs140678926 | 7:142,618,068 | C/T | intron variant | — |
| rs1382749251 | 7:142,622,646 | A/G | — | uncertain significance |
| rs202171798 | 7:142,622,711 | C/T | — | uncertain significance |
| rs748585734 | 7:142,622,712 | G/A | — | likely benign |
| rs4252435 | 7:142,622,714 | G/G | — | benign |
| rs1340959951 | 7:142,622,724 | A/T | — | uncertain significance |
| rs866060415 | 7:142,622,764 | A/G | — | uncertain significance |
| rs186613096 | 7:142,622,766 | G/A | — | uncertain significance |
| rs149241771 | 7:142,622,769 | C/T | — | uncertain significance |
| rs764623394 | 7:142,622,770 | G/A | — | uncertain significance |
| rs387907542 | 7:142,622,780 | G/A | — | uncertain significance |
| rs1796017344 | 7:142,625,241 | T/C | — | uncertain significance |
| rs4252418 | 7:142,625,249 | T/C | — | benign |
| rs4252417 | 7:142,625,258 | G/A | synonymous variant | — |
| rs532397195 | 7:142,625,271 | G/A | — | uncertain significance |
| rs35495848 | 7:142,625,305 | G/A | — | benign |
| rs1436631191 | 7:142,625,821 | G/A | — | uncertain significance |
| rs765565229 | 7:142,625,842 | G/A | — | uncertain significance |
| rs568086241 | 7:142,625,879 | A/C | — | uncertain significance |
| rs4252412 | 7:142,625,882 | G/G | — | benign |
| rs147641995 | 7:142,626,164 | C/T | — | uncertain significance |
| rs373756563 | 7:142,626,168 | C/T | — | uncertain significance |
| rs778751452 | 7:142,626,538 | T/G | — | uncertain significance |
| rs387907544 | 7:142,626,540 | C/T | — | uncertain significance |
| rs4236480 | 7:142,626,549 | C/A | missense variant | benign |
| rs192702809 | 7:142,626,552 | C/T | — | uncertain significance |
| rs764773053 | 7:142,626,553 | G/A | — | likely benign |
| rs4236481 | 7:142,626,773 | A/C | intron variant | — |
| rs4252402 | 7:142,627,138 | G/T | — | — |
| rs1796060101 | 7:142,627,176 | G/A | — | uncertain significance |
| rs548925016 | 7:142,627,218 | G/C | — | uncertain significance |
| rs760120370 | 7:142,627,236 | T/C | — | uncertain significance |
| rs192601485 | 7:142,627,522 | G/A | — | uncertain significance |
| rs4252400 | 7:142,627,580 | G/C | — | — |
| rs146373430 | 7:142,630,444 | A/G | — | uncertain significance |
| rs1445207174 | 7:142,630,457 | C/T | — | uncertain significance |
| rs118026031 | 7:142,630,489 | A/G | — | benign |
| rs772372605 | 7:142,630,495 | G/T | — | uncertain significance |
| rs377258108 | 7:142,630,524 | G/A | — | uncertain significance |
| rs753055138 | 7:142,630,544 | G/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.