PPP1R12C
protein phosphatase 1 regulatory subunit 12C
Summary
The gene encodes a subunit of myosin phosphatase. The encoded protein regulates the catalytic activity of protein phosphatase 1 delta and assembly of the actin cytoskeleton. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012]
Known Variants58 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs913350269 | 19:55,602,864 | G/A | — | likely benign |
| rs752182487 | 19:55,602,908 | C/T | — | uncertain significance |
| rs200677433 | 19:55,602,910 | C/T | — | uncertain significance |
| rs766702126 | 19:55,603,049 | C/A | — | uncertain significance |
| rs2515286139 | 19:55,603,059 | C/A | — | uncertain significance |
| rs773125943 | 19:55,603,262 | C/A | — | uncertain significance |
| rs1478737074 | 19:55,603,621 | T/G | — | uncertain significance |
| rs146764513 | 19:55,603,667 | C/T | — | uncertain significance |
| rs757308192 | 19:55,603,669 | T/C | — | uncertain significance |
| rs771894836 | 19:55,603,868 | C/T | — | uncertain significance |
| rs748133844 | 19:55,603,911 | T/A | — | uncertain significance |
| rs187012282 | 19:55,604,005 | C/A | — | uncertain significance |
| rs1348781448 | 19:55,604,006 | G/C | — | uncertain significance |
| rs1455572684 | 19:55,604,187 | G/C | — | uncertain significance |
| rs752386250 | 19:55,604,200 | G/A | — | uncertain significance |
| rs1168804316 | 19:55,604,435 | G/C | — | uncertain significance |
| rs75554203 | 19:55,604,575 | C/T | — | benign |
| rs2515296120 | 19:55,604,582 | A/G | — | uncertain significance |
| rs746483392 | 19:55,604,588 | G/A | — | uncertain significance |
| rs761984310 | 19:55,605,756 | T/C | — | uncertain significance |
| rs562026249 | 19:55,605,774 | T/G | — | uncertain significance |
| rs147320612 | 19:55,605,789 | G/A | — | uncertain significance |
| rs35936110 | 19:55,606,673 | C/T | — | likely benign |
| rs779932431 | 19:55,606,683 | G/A | — | uncertain significance |
| rs762587386 | 19:55,606,722 | T/C | — | likely benign |
| rs561720084 | 19:55,606,937 | C/T | — | uncertain significance |
| rs201640646 | 19:55,606,956 | G/C | — | uncertain significance |
| rs771884138 | 19:55,607,278 | T/C | — | uncertain significance |
| rs534791014 | 19:55,607,421 | G/T | — | uncertain significance |
| rs1480587325 | 19:55,607,427 | C/T | — | uncertain significance |
| rs35641913 | 19:55,607,447 | G/A | — | benign |
| rs140456089 | 19:55,607,485 | G/A | — | uncertain significance |
| rs905204640 | 19:55,607,666 | T/C | — | uncertain significance |
| rs201139942 | 19:55,607,699 | C/T | — | uncertain significance |
| rs145564651 | 19:55,610,186 | C/G | — | uncertain significance |
| rs569277962 | 19:55,610,381 | C/T | — | uncertain significance |
| rs757621931 | 19:55,610,394 | C/T | — | likely benign |
| rs773087357 | 19:55,610,441 | C/T | — | uncertain significance |
| rs34297590 | 19:55,614,812 | G/A | — | likely benign |
| rs950771571 | 19:55,614,845 | G/A | — | likely benign |
| rs192055358 | 19:55,620,138 | G/C | intron variant | — |
| rs116840455 | 19:55,623,871 | T/G | — | benign |
| rs761462356 | 19:55,623,903 | T/C | — | uncertain significance |
| rs1603006936 | 19:55,623,907 | C/T | — | uncertain significance |
| rs2515360899 | 19:55,623,939 | T/C | — | uncertain significance |
| rs2515361401 | 19:55,624,067 | C/T | — | uncertain significance |
| rs145116714 | 19:55,624,078 | G/A | — | uncertain significance |
| rs769134366 | 19:55,624,116 | C/G | — | uncertain significance |
| rs145777539 | 19:55,626,851 | T/C | regulatory region variant | — |
| rs1284337409 | 19:55,628,602 | C/A | — | uncertain significance |
| rs967720011 | 19:55,628,644 | C/G | — | uncertain significance |
| rs1487831118 | 19:55,628,701 | G/C | — | uncertain significance |
| rs768764037 | 19:55,628,707 | G/C | — | uncertain significance |
| rs2085167032 | 19:55,628,775 | G/C | — | uncertain significance |
| rs912410451 | 19:55,628,779 | G/A | — | uncertain significance |
| rs867581031 | 19:55,628,798 | G/A | — | likely benign |
| rs1416644228 | 19:55,628,872 | C/A | — | uncertain significance |
| rs2085169517 | 19:55,628,899 | C/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.