X6R5C5 · X6R5C5_HUMAN
- ProteinCarboxypeptidase
- GeneCTSA
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids481 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score2/5
Variants
Filter Consequence
Filter Provenance
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | |
---|---|---|---|---|---|---|
COSV51945831 | 1 | M>? | cosmic curated | |||
COSV105050858 | 3 | S>F | cosmic curated | |||
COSV51944407 | 6 | R>L | cosmic curated | |||
COSV105050908 | 6 | R>W | cosmic curated | |||
COSV99509930 | 9 | P>S | cosmic curated | |||
COSV51944067 | 10 | G>R | cosmic curated | |||
COSV51941603 | 18 | E>D | cosmic curated | |||
COSV99510109 | 18 | E>Q | cosmic curated | |||
COSV51941229 | 39 | S>F | cosmic curated | |||
COSV51943324 | 41 | A>V | cosmic curated | |||
COSV99510150 RCV001878032 rs746200419 | 43 | R>Q | Combined deficiency of sialidase AND beta galactosidase (ClinVar) Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl, ClinVar) | NCI-TCGA Cosmic cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | |
COSV107206986 | 46 | A>T | cosmic curated | |||
COSV51942326 RCV002003628 rs961795659 | 49 | D>N | Combined deficiency of sialidase AND beta galactosidase (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | cosmic curated ClinVar TOPMed dbSNP gnomAD | |
COSV99510071 | 50 | Q>H | cosmic curated | |||
COSV51942956 | 64 | S>C | cosmic curated | |||
COSV51940544 | 68 | Y>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV51945359 | 75 | S>P | cosmic curated | |||
COSV51942046 rs1477984978 | 76 | G>S | cosmic curated gnomAD | |||
COSV51942972 | 77 | S>C | cosmic curated | |||
COSV99509742 | 78 | K>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV51944491 | 81 | H>Q | cosmic curated | |||
COSV105050827 rs11538052 | 87 | S>F | cosmic curated TOPMed | |||
COSV51945820 | 88 | Q>* | cosmic curated | |||
COSV51944559 | 100 | L>P | cosmic curated | |||
COSV51943944 | 104 | P>S | cosmic curated | |||
COSV51941352 | 107 | S>G | cosmic curated | |||
COSV99509576 | 110 | D>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV99510251 | 117 | G>D | cosmic curated | |||
COSV51943915 | 118 | P>H | cosmic curated | |||
COSV51941269 | 122 | A>V | cosmic curated | |||
COSV51941378 | 123 | N>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV51944317 | 127 | L>P | cosmic curated | |||
COSV51944763 | 129 | S>F | cosmic curated | |||
COSV51943119 rs376642070 | 131 | A>T | Variant of uncertain significance (Ensembl) | cosmic curated ESP ExAC gnomAD | ||
COSV99509877 | 132 | G>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV99509835 | 134 | G>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV51945809 rs1444547436 | 136 | S>F | cosmic curated gnomAD | |||
COSV51943487 rs747968515 | 139 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | ||
COSV51941948 | 149 | E>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV51940684 | 155 | F>V | cosmic curated | |||
COSV51941422 rs139760741 | 157 | A>V | Variant of uncertain significance (Ensembl) | cosmic curated ESP ExAC TOPMed gnomAD | ||
COSV51944028 rs150665171 | 163 | R>C | Variant of uncertain significance (Ensembl) | cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD | ||
COSV51941886 rs139920208 | 163 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | cosmic curated ESP ExAC TOPMed dbSNP gnomAD | ||
COSV51944635 | 163 | R>S | cosmic curated | |||
COSV99509680 | 166 | P>Q | cosmic curated | |||
COSV99510137 | 169 | K>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV51942850 | 177 | G>V | cosmic curated | |||
COSV51943311 | 178 | E>K | cosmic curated | |||
COSV51942092 | 180 | Y>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV51943141 | 186 | P>S | cosmic curated | |||
COSV51942440 | 187 | T>P | cosmic curated | |||
COSV51944602 rs773522013 | 190 | V>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |
COSV99510166 rs1244064907 | 194 | Q>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | ||
COSV51943971 | 196 | P>A | cosmic curated | |||
COSV51943794 COSV51943971 | 196 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV51943724 | 202 | G>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV99509884 | 202 | G>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV105050894 rs776242113 | 210 | S>F | cosmic curated ExAC gnomAD | |||
COSV51940891 | 212 | Y>C | cosmic curated | |||
COSV99509869 | 212 | Y>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV51944133 | 218 | S>P | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV51945451 | 219 | L>M | cosmic curated | |||
COSV107206985 | 221 | Y>* | cosmic curated | |||
COSV51945417 | 226 | H>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV51943053 | 231 | N>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV99509730 rs912159817 | 233 | L>P | cosmic curated TOPMed gnomAD | |||
COSV107206887 | 234 | W>* | cosmic curated | |||
COSV99509708 rs1226041855 | 234 | W>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | ||
COSV105050915 | 235 | S>C | cosmic curated | |||
COSV99510185 | 236 | S>F | cosmic curated | |||
COSV99509731 | 237 | L>I | cosmic curated | |||
VAR_001388 CA114216 COSV51944365 RCV000000412 RCV000000413 rs137854544 | 249 | Y>N | GSL; small amount of activity (UniProt) Galactosialidosis, late infantile (ClinVar) Combined deficiency of sialidase AND beta galactosidase (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | |
COSV51944753 | 254 | D>H | cosmic curated | |||
COSV51940843 COSV51944753 | 254 | D>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
CA9883135 COSV106083547 RCV000400530 RCV004021836 rs745752655 | 258 | V>M | Combined deficiency of sialidase AND beta galactosidase (ClinVar) Inborn genetic diseases (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | |
COSV99054911 | 271 | S>F | cosmic curated | |||
COSV105851833 | 276 | Y>C | cosmic curated | |||
COSV99509841 rs1418622409 | 277 | N>S | cosmic curated TOPMed gnomAD | |||
COSV51944229 | 280 | A>T | cosmic curated | |||
COSV51944243 | 280 | A>V | cosmic curated | |||
CA9883166 COSV51941511 RCV000359729 rs778824488 | 281 | P>L | Combined deficiency of sialidase AND beta galactosidase (ClinVar) Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl, ClinVar, NCI-TCGA) | ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | |
COSV51941155 | 293 | E>A | cosmic curated | |||
COSV99510138 | 293 | E>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV51942656 RCV001903773 rs779873368 | 294 | K>E | Combined deficiency of sialidase AND beta galactosidase (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | |
COSV99510257 RCV000762346 RCV001086926 rs142892564 | 295 | D>N | Combined deficiency of sialidase AND beta galactosidase (ClinVar) | Benign (Ensembl, ClinVar) | cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | |
COSV99510033 | 301 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV51941650 | 307 | T>A | cosmic curated | |||
COSV51946186 RCV001039101 rs368697828 | 313 | R>W | Combined deficiency of sialidase AND beta galactosidase (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | |
COSV51945637 | 317 | Q>R | cosmic curated | |||
COSV51944460 rs199916179 | 321 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | ||
COSV51944120 rs749462505 | 327 | R>C | cosmic curated ExAC TOPMed gnomAD | |||
COSV51941958 RCV001043823 rs554534522 | 327 | R>H | Combined deficiency of sialidase AND beta galactosidase (ClinVar) Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl, ClinVar, NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | |
COSV51941803 | 334 | N>K | cosmic curated | |||
COSV105050831 | 342 | L>F | cosmic curated | |||
COSV51944054 rs1987177019 | 345 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated gnomAD | ||
COSV51946156 RCV001990384 rs375345060 | 348 | R>Q | Combined deficiency of sialidase AND beta galactosidase (ClinVar) Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl, ClinVar) | cosmic curated ClinVar ESP ExAC dbSNP gnomAD | |
COSV51942538 rs1214049488 | 362 | M>T | cosmic curated TOPMed gnomAD | |||
COSV51943174 RCV002033521 rs766490643 | 372 | R>C | Combined deficiency of sialidase AND beta galactosidase (ClinVar) Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl, ClinVar) | NCI-TCGA Cosmic cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | |
COSV51943457 rs751619411 | 373 | R>H | cosmic curated ExAC TOPMed gnomAD | |||
CA9883297 COSV51941475 RCV000332847 rs370763298 | 376 | R>Q | Combined deficiency of sialidase AND beta galactosidase (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD | |
COSV51942391 | 377 | S>I | cosmic curated | |||
COSV51940626 | 379 | N>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV51943803 | 380 | S>F | cosmic curated | |||
COSV51944611 | 381 | Q>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV99509722 RCV002047404 rs779857539 | 400 | V>I | Combined deficiency of sialidase AND beta galactosidase (ClinVar) Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl, ClinVar) | NCI-TCGA Cosmic cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | |
COSV104387080 rs2083126584 COSV105050905 | 408 | G>E | cosmic curated TOPMed | |||
COSV99509988 | 410 | E>D | cosmic curated | |||
COSV99510242 | 416 | L>P | cosmic curated | |||
COSV51940571 | 419 | K>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV51943197 | 420 | M>I | cosmic curated | |||
COSV51944886 rs750797985 | 424 | R>C | Variant of uncertain significance (Ensembl) | cosmic curated ExAC TOPMed gnomAD | ||
VAR_063022 CA114224 CM961143 COSV99509770 RCV000000416 RCV003495104 rs137854547 | 439 | G>S | GSL (UniProt) Combined deficiency of sialidase AND beta galactosidase (ClinVar) Galactosialidosis, early infantile (ClinVar) Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Pathogenic (Ensembl, ClinVar, UniProt, NCI-TCGA) | UniProt ClinGen NCI-TCGA NCI-TCGA Cosmic cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | |
COSV99510224 | 439 | A>V | cosmic curated | |||
COSV51944256 rs766599837 | 442 | V>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC dbSNP gnomAD | ||
COSV99509711 | 445 | F>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV104559357 | 446 | S>F | cosmic curated | |||
COSV51945499 | 447 | H>Y | cosmic curated | |||
COSV51944305 | 448 | I>L | cosmic curated | |||
COSV51942040 RCV001138451 RCV002261290 rs144407534 | 449 | A>T | Combined deficiency of sialidase AND beta galactosidase (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD | |
COSV51941745 | 453 | I>M | cosmic curated | |||
COSV51943640 rs2083136134 | 456 | A>T | cosmic curated TOPMed | |||
CA9883400 COSV51941402 RCV000274356 rs200051553 | 457 | G>S | Combined deficiency of sialidase AND beta galactosidase (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD | |
COSV51940287 rs1568768160 | 459 | M>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP | ||
COSV51945856 | 461 | P>T | cosmic curated | |||
COSV104387077 | 470 | T>A | cosmic curated | |||
COSV51941969 | 472 | F>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV99509669 | 473 | S>Y | cosmic curated | |||
COSV51940403 rs759822843 | 474 | R>H | cosmic curated ExAC TOPMed gnomAD | |||
COSV51944972 rs147472210 | 474 | R>S | cosmic curated ESP ExAC TOPMed gnomAD | |||
COSV99510079 | 476 | L>M | cosmic curated | |||
COSV51945436 | 479 | Q>K | cosmic curated | |||