X6R5C5 · X6R5C5_HUMAN

  • Protein
    Carboxypeptidase
  • Gene
    CTSA
  • Status
    UniProtKB unreviewed (TrEMBL)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    2/5

Variants

148150100150200250300350400450200400

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GAVLISTCMDNEQRKHFYWPd*GAVLISTCMDNEQRKHFYWPd*
Variant
ID(s)
Position(s)ChangeDescriptionClinical
significance
Provenance
COSV519458311M>?cosmic curated
COSV1050508583S>Fcosmic curated
COSV519444076R>Lcosmic curated
COSV1050509086R>Wcosmic curated
COSV995099309P>Scosmic curated
COSV5194406710G>Rcosmic curated
COSV5194160318E>Dcosmic curated
COSV9951010918E>Qcosmic curated
COSV5194122939S>Fcosmic curated
COSV5194332441A>Vcosmic curated
COSV99510150
RCV001878032
rs746200419
43R>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
COSV10720698646A>Tcosmic curated
COSV51942326
RCV002003628
rs961795659
49D>N
Combined deficiency of sialidase AND beta galactosidase (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)cosmic curated
ClinVar
TOPMed
dbSNP
gnomAD
COSV9951007150Q>Hcosmic curated
COSV5194295664S>Ccosmic curated
COSV5194054468Y>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV5194535975S>Pcosmic curated
COSV51942046
rs1477984978
76G>Scosmic curated
gnomAD
COSV5194297277S>Ccosmic curated
COSV9950974278K>E
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV5194449181H>Qcosmic curated
COSV105050827
rs11538052
87S>Fcosmic curated
TOPMed
COSV5194582088Q>*cosmic curated
COSV51944559100L>Pcosmic curated
COSV51943944104P>Scosmic curated
COSV51941352107S>Gcosmic curated
COSV99509576110D>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV99510251117G>Dcosmic curated
COSV51943915118P>Hcosmic curated
COSV51941269122A>Vcosmic curated
COSV51941378123N>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV51944317127L>Pcosmic curated
COSV51944763129S>Fcosmic curated
COSV51943119
rs376642070
131A>TVariant of uncertain significance (Ensembl)cosmic curated
ESP
ExAC
gnomAD
COSV99509877132G>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV99509835134G>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV51945809
rs1444547436
136S>Fcosmic curated
gnomAD
COSV51943487
rs747968515
139D>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
COSV51941948149E>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV51940684155F>Vcosmic curated
COSV51941422
rs139760741
157A>VVariant of uncertain significance (Ensembl)cosmic curated
ESP
ExAC
TOPMed
gnomAD
COSV51944028
rs150665171
163R>CVariant of uncertain significance (Ensembl)cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSV51941886
rs139920208
163R>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
cosmic curated
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSV51944635163R>Scosmic curated
COSV99509680166P>Qcosmic curated
COSV99510137169K>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV51942850177G>Vcosmic curated
COSV51943311178E>Kcosmic curated
COSV51942092180Y>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV51943141186P>Scosmic curated
COSV51942440187T>Pcosmic curated
COSV51944602
rs773522013
190V>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
194Q>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
dbSNP
gnomAD
COSV51943971196P>Acosmic curated
COSV51943794
COSV51943971
196P>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV51943724202G>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV99509884202G>W
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV105050894
rs776242113
210S>Fcosmic curated
ExAC
gnomAD
COSV51940891212Y>Ccosmic curated
COSV99509869212Y>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV51944133218S>P
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV51945451219L>Mcosmic curated
COSV107206985221Y>*cosmic curated
COSV51945417226H>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV51943053231N>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV99509730
rs912159817
233L>Pcosmic curated
TOPMed
gnomAD
COSV107206887234W>*cosmic curated
COSV99509708
rs1226041855
234W>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
dbSNP
gnomAD
COSV105050915235S>Ccosmic curated
COSV99510185236S>Fcosmic curated
COSV99509731237L>Icosmic curated
VAR_001388
CA114216
COSV51944365
RCV000000412
RCV000000413
rs137854544
249Y>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
COSV51944753254D>Hcosmic curated
COSV51940843
COSV51944753
254D>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
CA9883135
COSV106083547
RCV000400530
RCV004021836
rs745752655
258V>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
COSV99054911271S>Fcosmic curated
COSV105851833276Y>Ccosmic curated
COSV99509841
rs1418622409
277N>Scosmic curated
TOPMed
gnomAD
COSV51944229280A>Tcosmic curated
COSV51944243280A>Vcosmic curated
CA9883166
COSV51941511
RCV000359729
rs778824488
281P>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
COSV51941155293E>Acosmic curated
COSV99510138293E>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV51942656
RCV001903773
rs779873368
294K>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
295D>N
Combined deficiency of sialidase AND beta galactosidase (ClinVar)
Benign (Ensembl, ClinVar)cosmic curated
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSV99510033301D>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV51941650307T>Acosmic curated
COSV51946186
RCV001039101
rs368697828
313R>W
Combined deficiency of sialidase AND beta galactosidase (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)cosmic curated
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSV51945637317Q>Rcosmic curated
COSV51944460
rs199916179
321R>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
COSV51944120
rs749462505
327R>Ccosmic curated
ExAC
TOPMed
gnomAD
COSV51941958
RCV001043823
rs554534522
327R>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
COSV51941803334N>Kcosmic curated
COSV105050831342L>Fcosmic curated
COSV51944054
rs1987177019
345P>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
gnomAD
COSV51946156
RCV001990384
rs375345060
348R>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
362M>Tcosmic curated
TOPMed
gnomAD
COSV51943174
RCV002033521
rs766490643
372R>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
373R>Hcosmic curated
ExAC
TOPMed
gnomAD
CA9883297
COSV51941475
RCV000332847
rs370763298
376R>Q
Combined deficiency of sialidase AND beta galactosidase (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinGen
cosmic curated
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSV51942391377S>Icosmic curated
COSV51940626379N>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV51943803380S>Fcosmic curated
COSV51944611381Q>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV99509722
RCV002047404
rs779857539
400V>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
408G>Ecosmic curated
TOPMed
COSV99509988410E>Dcosmic curated
COSV99510242416L>Pcosmic curated
COSV51940571419K>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV51943197420M>Icosmic curated
COSV51944886
rs750797985
424R>CVariant of uncertain significance (Ensembl)cosmic curated
ExAC
TOPMed
gnomAD
VAR_063022
CA114224
CM961143
COSV99509770
RCV000000416
RCV003495104
rs137854547
439G>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
COSV99510224439A>Vcosmic curated
COSV51944256
rs766599837
442V>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
dbSNP
gnomAD
COSV99509711445F>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV104559357446S>Fcosmic curated
COSV51945499447H>Ycosmic curated
COSV51944305448I>Lcosmic curated
COSV51942040
RCV001138451
RCV002261290
rs144407534
449A>T
Combined deficiency of sialidase AND beta galactosidase (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)cosmic curated
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSV51941745453I>Mcosmic curated
COSV51943640
rs2083136134
456A>Tcosmic curated
TOPMed
CA9883400
COSV51941402
RCV000274356
rs200051553
457G>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
459M>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
dbSNP
COSV51945856461P>Tcosmic curated
COSV104387077470T>Acosmic curated
COSV51941969472F>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV99509669473S>Ycosmic curated
COSV51940403
rs759822843
474R>Hcosmic curated
ExAC
TOPMed
gnomAD
COSV51944972
rs147472210
474R>Scosmic curated
ESP
ExAC
TOPMed
gnomAD
COSV99510079476L>Mcosmic curated
COSV51945436479Q>Kcosmic curated
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