PCDH12
protocadherin 12
Summary
This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein consists of an extracellular domain containing 6 cadherin repeats, a transmembrane domain and a cytoplasmic tail that differs from those of the classical cadherins. The gene localizes to the region on chromosome 5 where the protocadherin gene clusters reside. The exon organization of this transcript is similar to that of the gene cluster transcripts, notably the first large exon, but no significant sequence homology exists. The function of this cellular adhesion protein is undetermined but mouse protocadherin 12 does not bind catenins and appears to have no affect on cell migration or growth. [provided by RefSeq, Jul 2008]
Known Variants355 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs754194789 | 5:141,324,979 | G/C | — | uncertain significance |
| rs757585183 | 5:141,324,981 | T/C | — | uncertain significance |
| rs747203199 | 5:141,324,985 | G/T | — | likely benign |
| rs568393897 | 5:141,324,988 | C/G | — | benign |
| rs377240487 | 5:141,324,996 | C/T | — | uncertain significance |
| rs770633822 | 5:141,324,997 | C/T | — | likely benign |
| rs774266314 | 5:141,324,998 | G/A | — | uncertain significance |
| rs2532529747 | 5:141,325,033 | T/A | — | likely benign |
| rs1489953006 | 5:141,325,034 | G/C | — | uncertain significance |
| rs951530617 | 5:141,325,051 | C/T | — | likely benign |
| rs762172327 | 5:141,325,056 | C/A | — | uncertain significance |
| rs1191957458 | 5:141,325,067 | G/A | — | uncertain significance |
| rs780737042 | 5:141,325,075 | G/A | — | likely benign |
| rs751641087 | 5:141,325,076 | C/T | — | uncertain significance |
| rs748312193 | 5:141,325,081 | C/T | — | likely benign |
| rs756414503 | 5:141,325,082 | G/A | — | uncertain significance |
| rs778552811 | 5:141,325,088 | C/T | — | uncertain significance |
| rs143421666 | 5:141,325,089 | G/A | — | conflicting classifications of pathogenicity |
| rs530821223 | 5:141,325,091 | C/T | — | benign |
| rs199928581 | 5:141,325,097 | G/A | — | conflicting classifications of pathogenicity |
| rs1046095903 | 5:141,325,101 | C/G | — | uncertain significance |
| rs550826833 | 5:141,325,102 | G/A | — | likely benign |
| rs761360118 | 5:141,325,107 | C/T | — | uncertain significance |
| rs774517465 | 5:141,325,108 | G/A | — | likely benign |
| rs755608535 | 5:141,325,121 | A/G | — | uncertain significance |
| rs778087717 | 5:141,325,131 | G/A | — | uncertain significance |
| rs1350132011 | 5:141,325,137 | C/G | — | uncertain significance |
| rs758207505 | 5:141,325,140 | G/A | — | likely benign |
| rs746948122 | 5:141,325,146 | T/G | — | uncertain significance |
| rs138035071 | 5:141,325,147 | C/G | — | likely benign |
| rs2532530229 | 5:141,325,156 | T/C | — | likely benign |
| rs142028065 | 5:141,325,168 | C/T | — | likely benign |
| rs763342132 | 5:141,325,169 | G/A | — | uncertain significance |
| rs768111243 | 5:141,325,193 | G/A | — | uncertain significance |
| rs1238710844 | 5:141,325,212 | C/G | — | uncertain significance |
| rs779814208 | 5:141,325,230 | C/T | — | uncertain significance |
| rs781208573 | 5:141,325,234 | C/T | — | likely benign |
| rs141387550 | 5:141,325,235 | G/A | — | uncertain significance |
| rs769351723 | 5:141,325,236 | T/C | — | uncertain significance |
| rs105633 | 5:141,325,249 | T/C | — | benign |
| rs138061122 | 5:141,325,250 | G/A | — | uncertain significance |
| rs990659847 | 5:141,325,251 | G/C | — | uncertain significance |
| rs375522237 | 5:141,325,255 | C/T | — | likely benign |
| rs201055359 | 5:141,325,257 | C/G | — | likely benign |
| rs144211009 | 5:141,325,280 | A/G | — | likely benign |
| rs189652051 | 5:141,325,292 | C/T | — | likely benign |
| rs748846027 | 5:141,325,318 | G/C | — | likely benign |
| rs375614422 | 5:141,325,324 | C/T | — | likely benign |
| rs202168396 | 5:141,325,336 | C/T | — | likely benign |
| rs140094371 | 5:141,325,337 | G/A | — | conflicting classifications of pathogenicity |
| rs201420745 | 5:141,325,347 | C/T | — | likely benign |
| rs767329852 | 5:141,325,355 | C/T | — | uncertain significance |
| rs200233494 | 5:141,325,356 | G/A | — | uncertain significance |
| rs2126915232 | 5:141,325,359 | C/T | — | uncertain significance |
| rs369088298 | 5:141,325,379 | G/A | — | likely benign |
| rs77423286 | 5:141,325,467 | G/A | — | benign |
| rs368000377 | 5:141,329,005 | G/A | — | uncertain significance |
| rs1395493585 | 5:141,329,022 | C/T | — | likely benign |
| rs1359512868 | 5:141,329,058 | C/T | — | likely benign |
| rs61737141 | 5:141,329,059 | T/G | — | benign |
| rs372295206 | 5:141,329,075 | G/T | — | benign |
| rs779606801 | 5:141,329,084 | C/T | — | uncertain significance |
| rs2126919535 | 5:141,329,094 | G/T | — | conflicting classifications of pathogenicity |
| rs2532538220 | 5:141,329,151 | G/A | — | uncertain significance |
| rs35153199 | 5:141,330,954 | C/T | — | benign |
| rs2532542176 | 5:141,331,043 | C/T | — | likely benign |
| rs765986789 | 5:141,331,047 | G/A | — | likely benign |
| rs139682936 | 5:141,331,075 | G/A | — | likely benign |
| rs2532542537 | 5:141,331,086 | T/G | — | uncertain significance |
| rs2126922187 | 5:141,331,088 | T/C | — | uncertain significance |
| rs746075397 | 5:141,331,094 | C/T | — | uncertain significance |
| rs115735066 | 5:141,331,098 | G/A | — | benign |
| rs200704759 | 5:141,331,103 | G/T | — | uncertain significance |
| rs1047420178 | 5:141,331,124 | T/C | — | uncertain significance |
| rs908964142 | 5:141,331,131 | G/T | — | uncertain significance |
| rs747907583 | 5:141,334,566 | C/T | — | uncertain significance |
| rs141990944 | 5:141,334,572 | C/T | — | uncertain significance |
| rs141083707 | 5:141,334,573 | G/A | — | likely benign |
| rs773810499 | 5:141,334,575 | G/A | — | uncertain significance |
| rs375840810 | 5:141,334,580 | C/T | — | uncertain significance |
| rs375930414 | 5:141,334,585 | G/A | — | likely benign |
| rs551312542 | 5:141,334,587 | C/T | — | conflicting classifications of pathogenicity |
| rs149882545 | 5:141,334,588 | G/A | — | likely benign |
| rs1753151112 | 5:141,334,615 | G/T | — | uncertain significance |
| rs777396555 | 5:141,334,624 | G/T | — | likely benign |
| rs373091541 | 5:141,334,631 | C/T | — | conflicting classifications of pathogenicity |
| rs182860036 | 5:141,334,632 | G/A | — | uncertain significance |
| rs906145048 | 5:141,334,636 | C/T | — | likely benign |
| rs199848714 | 5:141,334,644 | C/G | — | uncertain significance |
| rs760223768 | 5:141,334,651 | A/G | — | likely benign |
| rs964316740 | 5:141,334,654 | G/A | — | likely benign |
| rs370507314 | 5:141,334,674 | G/T | — | likely benign |
| rs574087581 | 5:141,334,683 | G/A | — | conflicting classifications of pathogenicity |
| rs147558478 | 5:141,334,704 | C/T | — | uncertain significance |
| rs61737140 | 5:141,334,721 | G/A | — | benign |
| rs770265325 | 5:141,334,750 | C/T | — | likely benign |
| rs140005536 | 5:141,334,760 | G/A | — | benign |
| rs2126926933 | 5:141,334,766 | C/T | — | uncertain significance |
| rs61737138 | 5:141,334,782 | G/C | — | benign |
| rs767567681 | 5:141,334,790 | C/T | — | uncertain significance |
Showing 100 of 355 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.