Q8N983 · RM43_HUMAN
- ProteinLarge ribosomal subunit protein mL43
- GeneMRPL43
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids215 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Filter Consequence
Filter Provenance
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | |
---|---|---|---|---|---|---|
rs967091189 | 2 | T>M | TOPMed | |||
rs756732933 | 3 | A>G | ExAC gnomAD | |||
rs756732933 | 3 | A>V | ExAC gnomAD | |||
rs750991031 | 4 | R>C | ExAC gnomAD | |||
rs1383037673 | 4 | R>H | gnomAD | |||
rs1389491775 | 5 | G>R | gnomAD | |||
COSV99272660 | 5 | G>W | cosmic curated | |||
rs1590014913 | 6 | T>P | Ensembl | |||
rs1349296210 | 7 | P>L | TOPMed gnomAD | |||
rs764438517 | 8 | S>R | ExAC gnomAD | |||
rs1851580595 | 9 | R>C | TOPMed gnomAD | |||
rs1851580595 | 9 | R>G | TOPMed gnomAD | |||
COSV52967971 rs1294828350 | 10 | F>L | cosmic curated TOPMed | |||
COSV105071465 | 10 | F>Y | cosmic curated | |||
rs762939998 | 12 | A>S | ExAC TOPMed gnomAD | |||
rs958238658 | 12 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | TOPMed dbSNP gnomAD | ||
rs1851579139 | 13 | S>T | TOPMed | |||
rs1379886482 | 15 | L>F | TOPMed gnomAD | |||
rs1379886482 | 15 | L>V | TOPMed gnomAD | |||
rs1318128931 | 17 | N>S | TOPMed gnomAD | |||
COSV52971815 | 18 | G>E | cosmic curated | |||
rs745761228 | 18 | G>R | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | ||
rs1851576930 | 19 | L>R | Ensembl | |||
rs1229674885 | 19 | L>V | TOPMed gnomAD | |||
rs776550341 | 20 | G>R | ExAC TOPMed gnomAD | |||
rs776550341 | 20 | G>S | ExAC TOPMed gnomAD | |||
rs746876188 | 22 | Y>C | ExAC TOPMed gnomAD | |||
rs746876188 | 22 | Y>F | ExAC TOPMed gnomAD | |||
rs2133930028 | 25 | Q>L | Ensembl | |||
rs143218652 | 26 | L>R | ESP ExAC TOPMed gnomAD | |||
rs777285180 | 26 | L>V | ExAC TOPMed gnomAD | |||
rs1033957301 | 27 | Q>* | TOPMed | |||
rs1337315868 | 27 | Q>P | gnomAD | |||
rs1851574666 | 28 | R>P | Ensembl | |||
TCGA novel | 31 | F>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | ||
rs778519065 | 32 | S>N | ExAC gnomAD | |||
rs2133929861 | 33 | V>A | Ensembl | |||
rs1425419038 | 34 | S>N | gnomAD | |||
rs757552429 | 35 | R>C | ExAC TOPMed gnomAD | |||
rs752030288 | 35 | R>H | ExAC gnomAD | |||
rs757552429 | 35 | R>S | ExAC TOPMed gnomAD | |||
rs2133929759 | 36 | D>Y | Ensembl | |||
rs1364793017 | 37 | G>V | gnomAD | |||
rs1199118516 | 38 | A>S | TOPMed gnomAD | |||
rs1199118516 | 38 | A>T | TOPMed gnomAD | |||
rs1479764430 | 38 | A>V | gnomAD | |||
rs139519013 | 39 | S>L | ESP ExAC TOPMed gnomAD | |||
rs765229916 | 41 | R>C | ExAC gnomAD | |||
COSV52967004 | 41 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV52967291 | 42 | G>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs1282860549 | 42 | G>S | gnomAD | |||
rs776533961 | 43 | A>S | ExAC TOPMed gnomAD | |||
rs770967582 | 43 | A>V | ExAC TOPMed gnomAD | |||
rs200237209 | 45 | E>D | TOPMed | |||
rs1851554989 | 45 | E>K | Ensembl | |||
COSV52969080 | 46 | F>I | cosmic curated | |||
COSV52971829 | 47 | V>L | cosmic curated | |||
rs768492914 | 48 | E>G | ExAC | |||
rs1851554305 | 48 | E>K | TOPMed gnomAD | |||
rs1851554305 | 48 | E>Q | TOPMed gnomAD | |||
COSV99273103 | 49 | R>L | cosmic curated | |||
rs1590013337 | 51 | V>A | Ensembl | |||
rs1590013337 | 51 | V>E | Ensembl | |||
rs1590013337 | 51 | V>G | Ensembl | |||
rs1467956720 | 51 | V>M | TOPMed | |||
rs1459700849 | 54 | F>L | TOPMed gnomAD | |||
rs1459700849 | 54 | F>V | TOPMed gnomAD | |||
rs1162597481 | 55 | A>T | gnomAD | |||
rs533441923 | 56 | R>L | 1000Genomes ExAC gnomAD | |||
rs778152208 | 59 | P>A | ExAC gnomAD | |||
COSV52967052 rs778152208 | 59 | P>S | cosmic curated ExAC gnomAD | |||
rs778152208 | 59 | P>T | ExAC gnomAD | |||
rs1216196390 | 60 | G>A | TOPMed gnomAD | |||
rs1216196390 | 60 | G>E | TOPMed gnomAD | |||
rs565109783 | 60 | G>R | 1000Genomes ExAC gnomAD | |||
rs1564805270 | 61 | V>I | Ensembl | |||
rs748575303 | 62 | V>I | ExAC TOPMed gnomAD | |||
rs755240214 | 63 | I>M | ExAC TOPMed gnomAD | |||
rs11190782 | 64 | Y>* | gnomAD | |||
rs1851549360 | 67 | S>W | TOPMed gnomAD | |||
rs1331478942 | 68 | R>C | gnomAD | |||
rs1410956813 | 69 | P>L | TOPMed gnomAD | |||
rs1410956813 | 69 | P>Q | TOPMed gnomAD | |||
rs1851548331 | 69 | P>S | gnomAD | |||
rs1162367518 | 70 | C>W | gnomAD | |||
rs1442454345 | 71 | C>G | TOPMed gnomAD | |||
rs1253294213 | 71 | C>S | TOPMed gnomAD | |||
rs1469444940 | 73 | P>S | gnomAD | |||
COSV52973599 rs2133927846 | 74 | R>* | cosmic curated Ensembl | |||
rs374657325 | 74 | R>K | ESP TOPMed | |||
rs761697716 | 75 | V>I | ExAC TOPMed gnomAD | |||
rs761697716 | 75 | V>L | ExAC TOPMed gnomAD | |||
rs1190259537 | 76 | V>M | TOPMed | |||
rs1851544083 | 78 | E>G | TOPMed | |||
rs1435247550 | 79 | Y>C | TOPMed | |||
COSV52967631 | 79 | Y>H | cosmic curated | |||
rs1361616901 | 80 | L>F | TOPMed gnomAD | |||
rs1361616901 | 80 | L>I | TOPMed gnomAD | |||
rs1590011916 | 81 | N>H | Ensembl | |||
rs376762886 | 81 | N>K | ESP ExAC TOPMed gnomAD | |||
rs1001831379 | 81 | N>S | Ensembl | |||
rs907045234 | 82 | G>R | TOPMed | |||
TCGA novel | 82 | G>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | ||
COSV99272205 | 82 | G>W | cosmic curated | |||
COSV99273138 | 83 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs770449440 | 84 | V>L | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | ||
rs1213862278 | 85 | R>C | TOPMed gnomAD | |||
COSV52967637 | 86 | E>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs762266959 | 86 | E>Q | ExAC gnomAD | |||
COSV99273167 | 88 | S>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs1247089524 | 88 | S>T | TOPMed | |||
rs1261648935 | 89 | I>V | gnomAD | |||
rs575144608 | 90 | H>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | 1000Genomes ExAC dbSNP gnomAD | ||
rs1190949134 | 90 | H>Y | TOPMed | |||
rs1313267903 | 91 | C>S | gnomAD | |||
rs1243177485 | 94 | V>I | TOPMed gnomAD | |||
rs771799776 | 95 | E>D | ExAC TOPMed gnomAD | |||
rs917320234 | 96 | E>* | TOPMed gnomAD | |||
rs142003210 | 96 | E>G | 1000Genomes ExAC gnomAD | |||
rs745941765 | 97 | I>M | ExAC TOPMed gnomAD | |||
rs1851517808 | 97 | I>N | TOPMed | |||
rs1198909199 | 98 | S>A | TOPMed gnomAD | |||
rs1334439138 | 98 | S>L | gnomAD | |||
rs1198909199 | 98 | S>P | TOPMed gnomAD | |||
rs1851516615 | 99 | T>M | TOPMed gnomAD | |||
rs1851516772 | 99 | T>S | Ensembl | |||
rs757447272 | 100 | L>P | ExAC gnomAD | |||
rs62626267 | 100 | L>V | 1000Genomes ESP ExAC TOPMed gnomAD | |||
COSV52966047 | 102 | Q>* | cosmic curated | |||
rs1851515417 | 102 | Q>H | Ensembl | |||
COSV99272415 | 103 | K>E | cosmic curated | |||
rs1275124152 | 104 | L>P | gnomAD | |||
rs570996334 | 106 | D>H | 1000Genomes ExAC gnomAD | |||
rs570996334 | 106 | D>N | 1000Genomes ExAC gnomAD | |||
COSV52970999 | 106 | D>Y | cosmic curated | |||
rs752472843 | 107 | Q>H | ExAC gnomAD | |||
rs758204885 | 107 | Q>P | ExAC gnomAD | |||
COSV99040900 | 108 | S>* | cosmic curated | |||
rs1851514251 | 108 | S>P | TOPMed | |||
rs1851513951 | 109 | G>D | TOPMed gnomAD | |||
rs764917705 | 109 | G>S | ExAC gnomAD | |||
rs1851513480 | 111 | D>G | TOPMed gnomAD | |||
rs765808553 | 113 | I>M | ExAC | |||
rs1590011573 | 113 | I>T | Ensembl | |||
TCGA novel | 114 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | ||
rs925912566 | 114 | R>L | gnomAD | |||
TCGA novel | 115 | I>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | ||
rs760191631 | 116 | R>P | ExAC gnomAD | |||
rs1338885054 | 117 | K>* | gnomAD | |||
rs1851511672 | 118 | P>L | TOPMed | |||
rs1297556025 | 120 | H>R | TOPMed gnomAD | |||
rs1460394214 | 121 | T>A | gnomAD | |||
COSV52972736 | 123 | N>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV99271948 | 124 | P>H | cosmic curated | |||
rs763347299 | 124 | P>L | ExAC TOPMed gnomAD | |||
rs763347299 | 124 | P>R | ExAC TOPMed gnomAD | |||
rs1169268929 | 125 | S>G | gnomAD | |||
rs1383642197 | 126 | I>* | TOPMed gnomAD | |||
rs1447117766 COSV99273202 | 127 | Q>H | TOPMed gnomAD cosmic curated | |||
COSV108026438 | 128 | G>V | cosmic curated | |||
rs1851509696 | 129 | Q>* | Ensembl | |||
rs1590011424 | 131 | H>P | Ensembl | |||
rs1424763452 | 131 | H>Q | TOPMed gnomAD | |||
rs1851509539 | 131 | H>Y | TOPMed | |||
rs770219738 | 132 | P>L | ExAC TOPMed gnomAD | |||
rs148567788 | 132 | P>T | ESP ExAC TOPMed gnomAD | |||
COSV52970861 | 133 | F>L | cosmic curated | |||
COSV52970795 | 134 | T>N | cosmic curated | |||
rs1481902885 | 135 | N>S | gnomAD | |||
rs147532658 | 137 | P>L | Variant of uncertain significance (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | ||
COSV52969769 | 137 | P>T | cosmic curated | |||
rs1210235505 COSV52971757 | 140 | F>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | TOPMed gnomAD NCI-TCGA Cosmic cosmic curated | ||
COSV105071440 rs1564804133 | 141 | R>C | cosmic curated Ensembl | |||
rs143358234 | 141 | R>H | 1000Genomes ESP ExAC TOPMed gnomAD | |||
rs1851507313 | 142 | G>R | TOPMed | |||
rs1442210795 | 143 | L>I | TOPMed gnomAD | |||
rs1340906043 | 144 | R>C | TOPMed gnomAD | |||
rs747149437 | 144 | R>H | ExAC gnomAD | |||
rs758314694 | 145 | P>R | ExAC gnomAD | |||
COSV99272249 | 146 | R>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs1424132615 | 146 | R>G | TOPMed gnomAD | |||
rs752700572 | 146 | R>L | ExAC gnomAD | |||
COSV52967445 rs752700572 | 146 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC dbSNP gnomAD | ||
rs1851505673 | 147 | E>G | Ensembl | |||
rs778530734 | 148 | V>F | ExAC TOPMed gnomAD | |||
rs2133924762 | 148 | V>G | Ensembl | |||
COSV52967168 rs1048673338 | 149 | Q>* | cosmic curated TOPMed | |||
rs754807093 | 150 | D>H | ExAC TOPMed gnomAD | |||
rs1851504967 | 151 | P>A | Ensembl | |||
COSV99272597 | 151 | P>H | cosmic curated | |||
rs1851504668 | 152 | A>T | TOPMed | |||
rs1363649487 | 152 | A>V | gnomAD | |||
rs1851504180 | 153 | P>Q | Ensembl | |||
rs1564803977 | 154 | A>P | Ensembl | |||
rs1421443906 | 154 | A>V | gnomAD | |||
rs373156481 | 155 | Q>* | ESP gnomAD | |||
COSV52966084 rs995062097 | 155 | Q>R | cosmic curated Ensembl | |||
rs1226997498 | 156 | D>E | gnomAD | |||
COSV105071515 rs1851265432 | 161 | L>Q | cosmic curated Ensembl | |||
COSV105071547 | 162 | S>P | cosmic curated | |||
rs1851264866 | 163 | A>V | Ensembl | |||
COSV105071511 rs1851264505 | 164 | V>A | cosmic curated Ensembl | |||
rs1354773723 | 165 | A>G | gnomAD | |||
rs1411329720 | 165 | A>S | gnomAD | |||
rs138067900 | 166 | P>L | 1000Genomes ESP ExAC TOPMed gnomAD | |||
COSV105071508 rs138067900 | 166 | P>R | cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD | |||
rs1282725183 | 166 | P>S | TOPMed gnomAD | |||
COSV105071507 rs1851263236 | 167 | Q>P | cosmic curated Ensembl | |||
rs1851263063 | 168 | I>L | TOPMed | |||
COSV105071506 rs1851262875 | 168 | I>S | cosmic curated Ensembl | |||
COSV52967231 rs771404491 | 169 | L>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC dbSNP gnomAD | ||
COSV105071505 rs1472206434 | 169 | L>P | cosmic curated TOPMed gnomAD | |||
rs778047878 | 170 | L>P | ExAC gnomAD | |||
rs778047878 | 170 | L>Q | ExAC gnomAD | |||
COSV52966574 | 171 | P>L | cosmic curated | |||
rs1286873399 | 171 | P>S | TOPMed | |||
rs779055594 | 172 | G>R | ExAC TOPMed gnomAD | |||
rs779055594 | 172 | G>S | ExAC TOPMed gnomAD | |||
rs1851260166 | 173 | W>* | Ensembl | |||
COSV105071504 | 173 | W>Q | cosmic curated | |||
rs1473694674 | 173 | W>R | TOPMed | |||
rs138505815 | 175 | D>H | ESP ExAC TOPMed gnomAD | |||
rs138505815 | 175 | D>N | ESP ExAC TOPMed gnomAD | |||
rs2133904692 | 176 | P>L | Ensembl | |||
rs1159862173 | 176 | P>S | TOPMed | |||
rs1850945289 | 177 | P>R | TOPMed gnomAD | |||
rs1589988456 | 178 | D>A | Ensembl | |||
rs1288866802 | 178 | D>N | Ensembl | |||
rs754806911 | 179 | L>F | ExAC TOPMed gnomAD | |||
COSV52967255 | 180 | P>S | cosmic curated | |||
rs201698096 | 181 | T>A | 1000Genomes ExAC TOPMed gnomAD | |||
rs140083755 | 181 | T>I | ESP ExAC TOPMed gnomAD | |||
rs201698096 | 181 | T>P | 1000Genomes ExAC TOPMed gnomAD | |||
rs1589988397 | 183 | D>A | Ensembl | |||
rs761422909 | 184 | P>L | ExAC TOPMed gnomAD | |||
rs1850943915 | 184 | P>S | Ensembl | |||
rs1589988356 | 185 | I>V | Ensembl | |||
rs1850943407 | 186 | S>L | TOPMed | |||
rs765786419 | 187 | S>P | ExAC gnomAD | |||
rs1850942629 | 188 | S>L | Ensembl | |||
rs776912948 | 189 | L>F | ExAC gnomAD | |||
rs544145409 | 190 | T>I | 1000Genomes ExAC TOPMed gnomAD | |||
COSV52968363 | 191 | S>C | cosmic curated | |||
TCGA novel | 192 | A>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | ||
rs1850942008 | 192 | A>V | Ensembl | |||
COSV105071417 | 193 | P>A | cosmic curated | |||
COSV52967595 rs747148992 | 193 | P>L | cosmic curated ExAC TOPMed gnomAD | |||
rs2133879089 | 195 | P>S | Ensembl | |||
rs1850941258 | 196 | M>K | Ensembl | |||
rs1850941258 | 196 | M>R | Ensembl | |||
COSV52970983 rs576770183 | 196 | M>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC TOPMed dbSNP gnomAD | ||
rs1850940985 | 197 | L>P | TOPMed | |||
TCGA novel rs2133878989 | 198 | S>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Ensembl | ||
TCGA novel | 198 | S>P | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | ||
rs1850940449 | 199 | A>E | TOPMed | |||
rs779148627 | 199 | A>S | ExAC TOPMed gnomAD | |||
rs779148627 | 199 | A>T | ExAC TOPMed gnomAD | |||
rs1850940449 | 199 | A>V | TOPMed | |||
rs2133878916 | 200 | V>F | Ensembl | |||
rs2133878885 | 201 | S>C | Ensembl | |||
rs2133878885 | 201 | S>F | Ensembl | |||
rs1354135008 | 203 | L>F | gnomAD | |||
rs1354135008 | 203 | L>V | gnomAD | |||
rs1850939823 | 204 | P>A | TOPMed | |||
COSV52971728 rs146501195 | 204 | P>L | cosmic curated 1000Genomes ExAC TOPMed gnomAD | |||
rs146501195 | 204 | P>Q | 1000Genomes ExAC TOPMed gnomAD | |||
rs2133878729 | 205 | I>M | Ensembl | |||
rs1369579995 | 205 | I>T | TOPMed gnomAD | |||
rs1850939296 | 205 | I>V | TOPMed gnomAD | |||
rs2133878715 | 206 | V>G | Ensembl | |||
rs866156478 | 207 | P>S | TOPMed gnomAD | |||
rs1850938712 | 208 | A>V | TOPMed | |||
rs2133878648 | 210 | T>P | Ensembl | |||
rs767264493 | 211 | T>A | ExAC gnomAD | |||
COSV52972587 | 211 | T>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs146235728 | 212 | V>A | 1000Genomes ESP ExAC TOPMed gnomAD | |||
rs2133878615 | 213 | C>R | Ensembl | |||
rs2133878605 | 213 | C>Y | Ensembl | |||
COSV52967468 | 214 | S>A | cosmic curated | |||
rs1313225853 | 214 | S>L | TOPMed gnomAD | |||
rs2133878596 | 214 | S>T | Ensembl | |||
rs1420759299 | 215 | A>S | gnomAD | |||
rs374213077 | 215 | A>V | ESP ExAC TOPMed gnomAD | |||