MAMSTR
MEF2 activating motif and SAP domain containing transcriptional regulator
Summary
Predicted to enable transcription coregulator activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within positive regulation of myotube differentiation and positive regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants52 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs202155306 | 19:49,211,144 | G/A | — | — |
| rs78736419 | 19:49,211,154 | A/G | — | — |
| rs76226641 | 19:49,211,832 | C/A | — | — |
| rs78966440 | 19:49,213,154 | T/C | downstream gene variant | — |
| rs2452170 | 19:49,213,504 | G/A | downstream gene variant | — |
| rs28894750 | 19:49,213,531 | A/T | — | — |
| rs2638282 | 19:49,213,833 | G/A | downstream gene variant | — |
| rs281379 | 19:49,214,274 | G/A | downstream gene variant | — |
| rs281380 | 19:49,214,470 | T/A | — | — |
| rs4002471 | 19:49,215,095 | C/T | downstream gene variant | — |
| rs117062744 | 19:49,215,853 | T/G | downstream gene variant | — |
| rs564964694 | 19:49,216,151 | C/T | — | — |
| rs550062222 | 19:49,216,601 | G/T | — | uncertain significance |
| rs958626978 | 19:49,216,603 | G/A | — | uncertain significance |
| rs771666464 | 19:49,216,986 | C/G | — | uncertain significance |
| rs143820544 | 19:49,216,992 | C/G | — | uncertain significance |
| rs2032833267 | 19:49,217,011 | C/T | — | uncertain significance |
| rs374338052 | 19:49,217,181 | G/A | — | uncertain significance |
| rs145040442 | 19:49,217,183 | G/A | — | likely benign |
| rs138857721 | 19:49,217,196 | G/A | — | uncertain significance |
| rs779566328 | 19:49,217,217 | G/A | — | uncertain significance |
| rs1431761881 | 19:49,217,251 | T/C | — | uncertain significance |
| rs281386 | 19:49,217,305 | A/G | splice region variant | — |
| rs752106987 | 19:49,217,624 | G/A | — | uncertain significance |
| rs2032889995 | 19:49,217,633 | C/T | — | uncertain significance |
| rs2513980174 | 19:49,217,642 | G/T | — | uncertain significance |
| rs2513980353 | 19:49,217,658 | G/T | — | uncertain significance |
| rs550527832 | 19:49,217,684 | G/A | — | uncertain significance |
| rs1404298573 | 19:49,217,705 | G/C | — | uncertain significance |
| rs989464557 | 19:49,217,755 | C/A | — | uncertain significance |
| rs773278734 | 19:49,217,786 | C/A | — | uncertain significance |
| rs771099786 | 19:49,217,804 | C/G | — | uncertain significance |
| rs774735487 | 19:49,217,805 | G/C | — | uncertain significance |
| rs1366112888 | 19:49,217,810 | T/G | — | uncertain significance |
| rs373516785 | 19:49,218,106 | G/C | — | uncertain significance |
| rs766102582 | 19:49,218,110 | G/A | — | uncertain significance |
| rs33988101 | 19:49,218,111 | G/T | synonymous variant | — |
| rs144156512 | 19:49,218,155 | A/G | — | uncertain significance |
| rs755394341 | 19:49,218,546 | C/T | — | uncertain significance |
| rs942379386 | 19:49,218,585 | C/G | — | uncertain significance |
| rs748807571 | 19:49,218,591 | G/C | — | uncertain significance |
| rs760635061 | 19:49,218,639 | T/C | — | uncertain significance |
| rs1269188200 | 19:49,218,657 | C/T | — | uncertain significance |
| rs1044688372 | 19:49,218,673 | C/G | — | uncertain significance |
| rs2513988937 | 19:49,218,906 | A/C | — | uncertain significance |
| rs751653467 | 19:49,218,926 | G/C | — | uncertain significance |
| rs2032988520 | 19:49,218,973 | G/C | — | uncertain significance |
| rs1410920888 | 19:49,218,979 | G/A | — | uncertain significance |
| rs660745 | 19:49,219,459 | T/C | regulatory region variant | — |
| rs563539353 | 19:49,219,485 | T/A | — | — |
| rs183262653 | 19:49,222,842 | A/C | downstream gene variant | — |
| rs281394 | 19:49,223,019 | C/G | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.