PKD2L1
polycystin 2 like 1, transient receptor potential cation channel
Summary
This gene encodes a member of the polycystin protein family. The encoded protein contains multiple transmembrane domains, and cytoplasmic N- and C-termini. The protein may be an integral membrane protein involved in cell-cell/matrix interactions. This protein functions as a calcium-regulated nonselective cation channel. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
Known Variants66 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs751912666 | 10:102,048,169 | G/A | — | likely benign |
| rs142439136 | 10:102,048,184 | C/T | — | benign |
| rs201818155 | 10:102,048,191 | G/T | — | uncertain significance |
| rs1359444625 | 10:102,048,194 | T/C | — | uncertain significance |
| rs777315215 | 10:102,048,737 | T/C | — | uncertain significance |
| rs2493305069 | 10:102,048,747 | G/C | — | uncertain significance |
| rs749286185 | 10:102,048,765 | G/A | — | uncertain significance |
| rs370879270 | 10:102,048,788 | G/A | — | likely benign |
| rs1199397954 | 10:102,049,779 | G/T | — | uncertain significance |
| rs144617354 | 10:102,049,802 | C/A | — | uncertain significance |
| rs1385759135 | 10:102,049,820 | C/A | — | uncertain significance |
| rs763555647 | 10:102,049,882 | C/A | — | uncertain significance |
| rs142195598 | 10:102,049,898 | G/A | — | benign |
| rs143580376 | 10:102,050,257 | A/G | — | uncertain significance |
| rs114804435 | 10:102,051,092 | T/A | — | benign |
| rs2493309786 | 10:102,051,111 | T/G | — | uncertain significance |
| rs115252223 | 10:102,051,114 | G/A | — | conflicting classifications of pathogenicity |
| rs1311877147 | 10:102,052,720 | G/A | — | uncertain significance |
| rs761042278 | 10:102,053,114 | T/C | — | uncertain significance |
| rs112366839 | 10:102,053,131 | C/A | — | conflicting classifications of pathogenicity |
| rs146598850 | 10:102,054,363 | C/A | — | uncertain significance |
| rs2493315779 | 10:102,054,393 | T/G | — | uncertain significance |
| rs141868275 | 10:102,054,397 | C/T | — | benign |
| rs1589661817 | 10:102,054,709 | T/G | — | uncertain significance |
| rs201327385 | 10:102,054,739 | C/T | — | uncertain significance |
| rs377040989 | 10:102,054,751 | A/T | — | uncertain significance |
| rs201123338 | 10:102,054,754 | C/T | — | uncertain significance |
| rs117568519 | 10:102,054,831 | G/A | — | uncertain significance |
| rs989041009 | 10:102,054,852 | G/A | — | uncertain significance |
| rs1325319853 | 10:102,054,867 | A/T | — | uncertain significance |
| rs201578262 | 10:102,054,868 | T/C | — | benign |
| rs7079679 | 10:102,055,546 | C/A | intron variant | — |
| rs376129958 | 10:102,055,871 | C/T | — | likely benign |
| rs149093514 | 10:102,055,890 | C/T | — | uncertain significance |
| rs1250005521 | 10:102,055,917 | T/G | — | uncertain significance |
| rs529114199 | 10:102,055,964 | G/A | — | likely benign |
| rs145997401 | 10:102,055,997 | C/T | — | uncertain significance |
| rs191331074 | 10:102,056,058 | C/G | — | benign |
| rs200855686 | 10:102,056,783 | C/T | — | likely benign |
| rs202172386 | 10:102,056,789 | C/T | — | uncertain significance |
| rs150484120 | 10:102,056,866 | G/A | — | benign |
| rs531765822 | 10:102,056,912 | C/T | — | uncertain significance |
| rs2493320766 | 10:102,056,939 | C/G | — | uncertain significance |
| rs767583848 | 10:102,057,163 | T/C | — | uncertain significance |
| rs149203866 | 10:102,057,189 | G/A | — | benign |
| rs148412598 | 10:102,057,238 | C/T | — | likely benign |
| rs143277422 | 10:102,057,276 | G/A | — | benign |
| rs745458428 | 10:102,057,292 | C/T | — | uncertain significance |
| rs758298099 | 10:102,058,328 | T/C | — | uncertain significance |
| rs114030839 | 10:102,058,433 | C/T | — | uncertain significance |
| rs372201396 | 10:102,058,472 | A/G | — | uncertain significance |
| rs139568989 | 10:102,058,483 | G/A | — | benign |
| rs748526267 | 10:102,058,488 | T/C | — | uncertain significance |
| rs149357658 | 10:102,058,516 | C/G | — | uncertain significance |
| rs2493326869 | 10:102,059,458 | T/C | — | uncertain significance |
| rs17112901 | 10:102,066,185 | C/T | intron variant | — |
| rs603424 | 10:102,075,479 | G/A | intron variant | — |
| rs116266095 | 10:102,088,968 | G/A | — | benign |
| rs140152509 | 10:102,088,994 | A/G | — | uncertain significance |
| rs117403721 | 10:102,089,635 | C/A | — | likely benign |
| rs747322065 | 10:102,089,650 | G/T | — | uncertain significance |
| rs147847687 | 10:102,089,682 | G/A | — | uncertain significance |
| rs201774904 | 10:102,089,733 | G/T | — | uncertain significance |
| rs746209620 | 10:102,089,754 | C/T | — | uncertain significance |
| rs193920845 | 10:102,089,791 | C/T | — | uncertain significance |
| rs370499234 | 10:102,089,808 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.