CARNS1
carnosine synthase 1
Summary
CARNS1 (EC 6.3.2.11), a member of the ATP-grasp family of ATPases, catalyzes the formation of carnosine (beta-alanyl-L-histidine) and homocarnosine (gamma-aminobutyryl-L-histidine), which are found mainly in skeletal muscle and the central nervous system, respectively (Drozak et al., 2010 [PubMed 20097752]).[supplied by OMIM, Apr 2010]
Known Variants72 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs56389755 | 11:67,182,581 | G/A | regulatory region variant | — |
| rs1804756756 | 11:67,184,911 | T/G | — | uncertain significance |
| rs576033943 | 11:67,184,972 | C/T | — | uncertain significance |
| rs543436747 | 11:67,185,001 | C/T | — | uncertain significance |
| rs1401231306 | 11:67,185,039 | G/C | — | uncertain significance |
| rs1863577693 | 11:67,185,044 | C/T | — | uncertain significance |
| rs1022883234 | 11:67,185,092 | G/A | — | uncertain significance |
| rs2495510592 | 11:67,185,101 | A/G | — | uncertain significance |
| rs1466969968 | 11:67,185,122 | A/G | — | uncertain significance |
| rs764850754 | 11:67,185,128 | G/T | — | uncertain significance |
| rs373347042 | 11:67,185,914 | C/T | — | uncertain significance |
| rs1790733 | 11:67,186,000 | A/G | regulatory region variant | — |
| rs2495515746 | 11:67,186,296 | C/T | — | uncertain significance |
| rs780341051 | 11:67,186,316 | G/T | — | uncertain significance |
| rs1863613252 | 11:67,186,319 | G/T | — | uncertain significance |
| rs751602708 | 11:67,186,370 | C/T | — | uncertain significance |
| rs750645891 | 11:67,186,374 | G/A | — | uncertain significance |
| rs1432540657 | 11:67,186,382 | T/C | — | uncertain significance |
| rs372520034 | 11:67,186,415 | C/T | — | uncertain significance |
| rs575023651 | 11:67,186,670 | G/T | — | uncertain significance |
| rs573001715 | 11:67,186,700 | G/A | — | uncertain significance |
| rs765868422 | 11:67,186,994 | C/T | — | uncertain significance |
| rs375601665 | 11:67,187,007 | G/A | — | likely benign |
| rs746941221 | 11:67,187,016 | C/T | — | conflicting classifications of pathogenicity |
| rs773632607 | 11:67,187,036 | G/A | — | uncertain significance |
| rs764741356 | 11:67,187,063 | G/C | — | uncertain significance |
| rs747303499 | 11:67,187,238 | G/A | — | uncertain significance |
| rs746358990 | 11:67,187,245 | G/T | — | uncertain significance |
| rs1007612294 | 11:67,187,257 | G/A | — | uncertain significance |
| rs1311501798 | 11:67,187,293 | G/A | — | uncertain significance |
| rs891022710 | 11:67,188,108 | G/T | — | uncertain significance |
| rs12786101 | 11:67,188,111 | C/T | — | uncertain significance |
| rs1481536710 | 11:67,188,135 | C/T | — | uncertain significance |
| rs1863672376 | 11:67,188,197 | G/C | — | uncertain significance |
| rs774069902 | 11:67,188,442 | G/A | — | likely benign |
| rs2495526920 | 11:67,188,514 | T/G | — | uncertain significance |
| rs1193678975 | 11:67,188,546 | C/A | — | likely benign |
| rs1187714834 | 11:67,188,547 | G/A | — | uncertain significance |
| rs2495527433 | 11:67,188,584 | G/T | — | uncertain significance |
| rs929630629 | 11:67,188,611 | G/C | — | uncertain significance |
| rs978360640 | 11:67,188,656 | T/C | — | uncertain significance |
| rs548198385 | 11:67,188,671 | C/T | — | uncertain significance |
| rs1284302762 | 11:67,188,685 | C/A | — | uncertain significance |
| rs201680999 | 11:67,190,867 | C/T | — | uncertain significance |
| rs200047923 | 11:67,190,928 | G/A | — | uncertain significance |
| rs775303284 | 11:67,190,939 | G/A | — | uncertain significance |
| rs375632692 | 11:67,190,970 | G/A | — | uncertain significance |
| rs745605718 | 11:67,190,978 | G/A | — | uncertain significance |
| rs1790746 | 11:67,191,075 | C/A | — | uncertain significance |
| rs767073233 | 11:67,191,084 | G/A | — | uncertain significance |
| rs2495535864 | 11:67,191,173 | T/C | — | uncertain significance |
| rs372103279 | 11:67,191,212 | G/A | — | uncertain significance |
| rs187727543 | 11:67,191,317 | C/T | — | uncertain significance |
| rs760237013 | 11:67,191,333 | T/G | — | uncertain significance |
| rs779197000 | 11:67,191,420 | A/G | — | uncertain significance |
| rs1260082868 | 11:67,191,446 | C/T | — | uncertain significance |
| rs759926186 | 11:67,191,447 | G/A | — | uncertain significance |
| rs2495537302 | 11:67,191,492 | C/T | — | uncertain significance |
| rs2495538019 | 11:67,191,674 | G/A | — | uncertain significance |
| rs535216231 | 11:67,191,687 | G/A | — | uncertain significance |
| rs578222450 | 11:67,191,755 | C/T | missense variant | — |
| rs767755490 | 11:67,191,762 | C/T | — | uncertain significance |
| rs557708089 | 11:67,191,780 | G/A | — | uncertain significance |
| rs949738958 | 11:67,191,882 | G/A | — | uncertain significance |
| rs1432388977 | 11:67,191,927 | G/A | — | uncertain significance |
| rs763662357 | 11:67,191,938 | G/A | — | uncertain significance |
| rs771299553 | 11:67,191,984 | C/T | — | uncertain significance |
| rs371144338 | 11:67,191,986 | C/T | — | uncertain significance |
| rs759947228 | 11:67,191,987 | G/A | — | uncertain significance |
| rs1034383010 | 11:67,191,989 | C/A | — | uncertain significance |
| rs201448851 | 11:67,192,019 | G/A | — | uncertain significance |
| rs1790748 | 11:67,192,107 | T/A | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.