SAMD4A
sterile alpha motif domain containing 4A
Summary
Sterile alpha motifs (SAMs) in proteins such as SAMD4A are part of an RNA-binding domain that functions as a posttranscriptional regulator by binding to an RNA sequence motif known as the Smaug recognition element, which was named after the Drosophila Smaug protein (Baez and Boccaccio, 2005 [PubMed 16221671]).[supplied by OMIM, Mar 2008]
Known Variants27 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs545974904 | 14:55,032,434 | C/A | — | — |
| rs2502635040 | 14:55,034,771 | A/G | — | uncertain significance |
| rs2502635697 | 14:55,034,826 | C/G | — | uncertain significance |
| rs200235203 | 14:55,034,829 | C/T | — | benign |
| rs554190564 | 14:55,117,530 | C/T | — | — |
| rs17127713 | 14:55,122,918 | A/G | regulatory region variant | — |
| rs534677198 | 14:55,165,343 | G/A | — | — |
| rs1204855922 | 14:55,169,074 | G/C | — | uncertain significance |
| rs760016639 | 14:55,169,146 | A/G | — | uncertain significance |
| rs2503537831 | 14:55,169,286 | A/C | — | uncertain significance |
| rs17657012 | 14:55,176,344 | A/G | regulatory region variant | — |
| rs531418177 | 14:55,187,693 | G/A | — | — |
| rs2503813919 | 14:55,203,972 | A/G | — | uncertain significance |
| rs78426294 | 14:55,210,728 | C/A | intron variant | — |
| rs2503951613 | 14:55,218,171 | T/A | — | uncertain significance |
| rs1957358 | 14:55,222,475 | T/C | intron variant | association |
| rs2504017780 | 14:55,226,940 | C/T | — | uncertain significance |
| rs1334198363 | 14:55,226,961 | C/T | — | uncertain significance |
| rs2038357312 | 14:55,226,970 | C/G | — | uncertain significance |
| rs772100892 | 14:55,227,008 | C/G | — | uncertain significance |
| rs1053271797 | 14:55,227,090 | C/T | — | uncertain significance |
| rs75839195 | 14:55,231,167 | T/C | — | benign |
| rs2504054953 | 14:55,231,233 | T/C | — | uncertain significance |
| rs139601106 | 14:55,241,682 | G/A | — | benign |
| rs1249869962 | 14:55,243,175 | G/A | — | uncertain significance |
| rs143254208 | 14:55,243,236 | C/T | — | likely benign |
| rs34392121 | 14:55,246,401 | T/A | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.