NSUN3
NOP2/Sun RNA methyltransferase 3
Summary
Enables tRNA (cytidine-5-)-methyltransferase activity. Involved in regulation of mitochondrial translation and tRNA wobble base cytosine methylation. Located in mitochondrial matrix. Implicated in combined oxidative phosphorylation deficiency 48. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants84 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs546505122 | 3:93,781,971 | A/G | — | uncertain significance |
| rs1441962517 | 3:93,781,974 | C/G | — | uncertain significance |
| rs184570605 | 3:93,783,272 | T/C | — | likely benign |
| rs779000133 | 3:93,783,280 | G/T | — | uncertain significance |
| rs2472181544 | 3:93,783,300 | G/A | — | uncertain significance |
| rs2472181580 | 3:93,783,327 | T/G | — | uncertain significance |
| rs78718391 | 3:93,783,367 | C/T | — | likely benign |
| rs114836795 | 3:93,783,369 | G/A | — | uncertain significance |
| rs978598458 | 3:93,783,383 | A/G | — | uncertain significance |
| rs925794564 | 3:93,783,388 | A/G | — | likely benign |
| rs1576078017 | 3:93,783,394 | A/C | — | uncertain significance |
| rs2077195403 | 3:93,783,403 | C/T | — | likely benign |
| rs1278587510 | 3:93,783,408 | C/T | — | likely benign |
| rs145478857 | 3:93,783,409 | G/T | — | benign |
| rs80133433 | 3:93,791,551 | C/A | downstream gene variant | — |
| rs763131085 | 3:93,802,943 | A/G | — | likely benign |
| rs2077282211 | 3:93,802,960 | A/G | — | likely benign |
| rs910635691 | 3:93,802,966 | T/G | — | likely benign |
| rs779924826 | 3:93,802,978 | G/A | — | pathogenic |
| rs1419219290 | 3:93,802,986 | C/G | — | uncertain significance |
| rs1316369062 | 3:93,802,991 | C/T | — | likely benign |
| rs199659889 | 3:93,803,000 | C/T | — | uncertain significance |
| rs1403294371 | 3:93,803,001 | G/C | — | uncertain significance |
| rs2077282441 | 3:93,803,004 | T/C | — | uncertain significance |
| rs1212198438 | 3:93,803,025 | A/G | — | uncertain significance |
| rs144791420 | 3:93,803,041 | G/C | — | likely benign |
| rs1453177415 | 3:93,803,048 | T/A | — | uncertain significance |
| rs2472197324 | 3:93,803,049 | A/C | — | uncertain significance |
| rs148551474 | 3:93,803,061 | C/T | — | likely benign |
| rs964561809 | 3:93,803,068 | A/T | — | likely benign |
| rs746592542 | 3:93,803,076 | C/T | — | uncertain significance |
| rs2107247182 | 3:93,803,097 | A/G | — | uncertain significance |
| rs1380012042 | 3:93,803,100 | G/C | — | uncertain significance |
| rs552880305 | 3:93,803,115 | C/A | — | uncertain significance |
| rs768827223 | 3:93,803,118 | C/T | — | uncertain significance |
| rs762031082 | 3:93,803,123 | C/T | — | uncertain significance |
| rs544261710 | 3:93,803,124 | G/A | — | uncertain significance |
| rs1422208005 | 3:93,803,134 | A/G | — | likely benign |
| rs765026110 | 3:93,803,181 | C/T | — | uncertain significance |
| rs2077283550 | 3:93,803,186 | T/C | — | uncertain significance |
| rs1295615704 | 3:93,803,199 | T/G | — | uncertain significance |
| rs373585696 | 3:93,803,223 | G/A | — | uncertain significance |
| rs780699805 | 3:93,803,231 | G/T | — | uncertain significance |
| rs2077283982 | 3:93,803,249 | G/C | — | pathogenic |
| rs756580372 | 3:93,803,252 | C/T | — | uncertain significance |
| rs145668984 | 3:93,803,275 | G/C | — | benign |
| rs2077284206 | 3:93,803,282 | T/A | — | pathogenic |
| rs2472197672 | 3:93,803,292 | C/A | — | uncertain significance |
| rs775345586 | 3:93,803,299 | T/C | — | uncertain significance |
| rs772428747 | 3:93,812,982 | A/G | — | uncertain significance |
| rs2472205060 | 3:93,813,019 | T/G | — | uncertain significance |
| rs1576090645 | 3:93,813,024 | G/T | — | uncertain significance |
| rs765943080 | 3:93,813,058 | C/T | — | conflicting classifications of pathogenicity |
| rs147353366 | 3:93,813,066 | G/A | — | benign |
| rs1288044535 | 3:93,813,081 | A/G | — | likely benign |
| rs758683930 | 3:93,813,088 | G/C | — | uncertain significance |
| rs373633427 | 3:93,813,098 | G/T | — | uncertain significance |
| rs553842157 | 3:93,813,122 | C/T | — | uncertain significance |
| rs181964621 | 3:93,813,141 | A/G | — | likely benign |
| rs200472930 | 3:93,813,882 | A/T | — | uncertain significance |
| rs781125666 | 3:93,813,894 | G/A | — | likely benign |
| rs1347790163 | 3:93,813,908 | G/A | — | uncertain significance |
| rs770683801 | 3:93,813,951 | G/A | — | likely benign |
| rs756145876 | 3:93,813,991 | C/T | — | likely benign |
| rs1352563867 | 3:93,813,998 | G/A | — | uncertain significance |
| rs371770889 | 3:93,814,000 | T/G | — | uncertain significance |
| rs748019344 | 3:93,814,011 | A/G | — | likely benign |
| rs572187356 | 3:93,814,013 | T/C | — | likely benign |
| rs61730354 | 3:93,845,062 | A/G | — | benign |
| rs750594684 | 3:93,845,071 | T/C | — | likely benign |
| rs371870611 | 3:93,845,074 | C/T | — | uncertain significance |
| rs140473115 | 3:93,845,097 | C/T | — | likely benign |
| rs758319727 | 3:93,845,099 | C/G | — | uncertain significance |
| rs2107276768 | 3:93,845,117 | A/C | — | uncertain significance |
| rs779695970 | 3:93,845,129 | A/T | — | uncertain significance |
| rs748852250 | 3:93,845,139 | C/G | — | uncertain significance |
| rs774880945 | 3:93,845,142 | T/C | — | likely benign |
| rs772421224 | 3:93,845,160 | C/T | — | likely benign |
| rs765267223 | 3:93,845,188 | G/A | — | uncertain significance |
| rs2472229324 | 3:93,845,198 | G/A | — | uncertain significance |
| rs761668973 | 3:93,845,275 | G/A | — | uncertain significance |
| rs374944456 | 3:93,845,289 | G/A | — | uncertain significance |
| rs1331877407 | 3:93,845,297 | C/T | — | uncertain significance |
| rs2472229518 | 3:93,845,321 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.