P04118 · COL_HUMAN

  • Protein
    Colipase
  • Gene
    CLPS
  • Status
    UniProtKB reviewed (Swiss-Prot)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    5/5

Variants

1112102030405060708090100110
MEKILILLLVALSVAYAAPGPRGIIINLENGELCMNSAQCKSNCCQHSSALGLARCTSMASENSECSVKTLYGIYYKCPCERGLTCEGDKTIVGSITNTNFGICHDAGRSKQ
GAVLISTCMDNEQRKHFYWPd*GAVLISTCMDNEQRKHFYWPd*
Variant
ID(s)
Position(s)ChangeDescriptionClinical
significance
Provenance
COSV525657511M>?
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs21510662733K>NEnsembl
rs7470559175L>PExAC
gnomAD
rs13780188375L>VgnomAD
rs14004782026I>LgnomAD
VAR_053040
rs2766597
8L>PUniProt
1000Genomes
ESP
ExAC
dbSNP
gnomAD
rs13954481539L>FTOPMed
gnomAD
rs7798926599L>PExAC
gnomAD
rs139179016410V>DTOPMed
rs139179016410V>GTOPMed
rs142298105510V>IgnomAD
COSV52566001
rs529464575
11A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
1000Genomes
ExAC
dbSNP
gnomAD
rs78120754512L>FExAC
gnomAD
TCGA novel14V>W
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA
rs176839145015A>DEnsembl
rs20024458915A>S1000Genomes
gnomAD
TCGA novel15A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs176839138316Y>CVariant of uncertain significance (Ensembl)Ensembl
rs135063965118A>VEnsembl
COSV99463877
rs1267702100
19P>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
dbSNP
gnomAD
rs76373679320G>DExAC
gnomAD
rs176839077620G>SEnsembl
rs76373679320G>VExAC
gnomAD
COSV5256595421P>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV52566402
rs867356635
21P>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
Ensembl
dbSNP
rs37209328822R>GESP
ExAC
gnomAD
COSV52567510
rs140966197
22R>Pcosmic curated
1000Genomes
ESP
ExAC
gnomAD
COSV52566165
rs140966197
22R>Qcosmic curated
1000Genomes
ESP
ExAC
gnomAD
COSV105012470
rs372093288
22R>Wcosmic curated
ESP
ExAC
gnomAD
rs124194404123G>RgnomAD
rs176838968326I>TEnsembl
rs176838975426I>VTOPMed
rs147381242129E>DEnsembl
COSV52566154
rs751569641
29E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
dbSNP
gnomAD
rs20172328630N>KExAC
TOPMed
gnomAD
COSV106370935
rs748075746
31G>Scosmic curated
ExAC
gnomAD
rs37330569733L>FESP
ExAC
gnomAD
rs77014670734C>FExAC
gnomAD
rs77014670734C>YExAC
gnomAD
COSV52566881
rs1356710984
35M>Icosmic curated
gnomAD
rs76050945335M>LExAC
gnomAD
rs121141705035M>TgnomAD
rs76050945335M>VExAC
gnomAD
rs96302763536N>SEnsembl
rs126462052737S>NgnomAD
rs126462052737S>TgnomAD
TCGA novel38A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs77308559038A>VExAC
TOPMed
gnomAD
rs176834934439Q>RgnomAD
rs101476882840C>YEnsembl
rs131159063542S>CgnomAD
COSV9946367442S>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs144756062443N>ITOPMed
gnomAD
rs144756062443N>TTOPMed
gnomAD
COSV52566780
COSV52566780,COSV99463868
COSV99463868
44C>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs215106554245C>WEnsembl
rs77827888845C>YExAC
gnomAD
rs176834825646Q>*Ensembl
rs123121132146Q>RTOPMed
gnomAD
rs76821012147H>NExAC
gnomAD
rs74880640047H>QExAC
TOPMed
gnomAD
COSV52566217
rs114191664
50A>Vcosmic curated
1000Genomes
ESP
ExAC
gnomAD
rs78165713852G>CExAC
gnomAD
rs78165713852G>SExAC
gnomAD
rs75767322254A>VExAC
gnomAD
rs75216710255R>CExAC
gnomAD
rs14253033555R>H1000Genomes
ESP
ExAC
gnomAD
rs14253033555R>P1000Genomes
ESP
ExAC
gnomAD
TCGA novel55R>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs176834640456C>YTOPMed
rs135760022957T>IgnomAD
rs75285875858S>PExAC
TOPMed
gnomAD
rs75285875858S>TExAC
TOPMed
gnomAD
rs176834565059M>ITOPMed
rs75989028059M>TExAC
gnomAD
rs53582360259M>V1000Genomes
ExAC
gnomAD
rs14784459160A>TESP
ExAC
gnomAD
rs139047703861S>NgnomAD
rs14455252261S>RESP
ExAC
gnomAD
COSV99463921
rs1332156651
62E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
dbSNP
gnomAD
rs145636563163N>DgnomAD
rs36996416065E>*ESP
ExAC
TOPMed
gnomAD
COSV107275263
rs369964160
65E>Kcosmic curated
ESP
ExAC
TOPMed
gnomAD
rs139974052067S>AgnomAD
rs77500290367S>CExAC
gnomAD
rs77500290367S>FExAC
gnomAD
COSV52567386
rs1000840014
68V>Fcosmic curated
Ensembl
rs117843873170T>AgnomAD
COSV52567473
rs140627661
70T>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
cosmic curated
1000Genomes
ESP
ExAC
dbSNP
gnomAD
rs135943930571L>PgnomAD
rs140480931172Y>CgnomAD
rs77267955472Y>HExAC
gnomAD
rs77911822175Y>*ExAC
gnomAD
rs215106524475Y>CEnsembl
rs140088068376Y>CTOPMed
gnomAD
rs215106523178C>REnsembl
rs176832813880C>YTOPMed
rs116952304281E>DgnomAD
rs158196059181E>GEnsembl
COSV52566762
rs755023217
82R>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
dbSNP
gnomAD
COSV52566047
rs114778877
82R>Hcosmic curated
1000Genomes
ESP
ExAC
gnomAD
rs176832763783G>CEnsembl
rs118387481584L>RgnomAD
rs78028026685T>NExAC
gnomAD
rs1181803210
COSV52566142
88G>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
gnomAD
NCI-TCGA Cosmic
cosmic curated
dbSNP
rs37610349888G>V1000Genomes
ExAC
gnomAD
rs119743757789D>AgnomAD
rs76287336989D>EExAC
TOPMed
gnomAD
COSV5256736091T>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs53721749792I>V1000Genomes
ExAC
gnomAD
rs176832643193V>ATOPMed
gnomAD
COSV52565708
rs150755879
93V>Mcosmic curated
1000Genomes
ESP
ExAC
gnomAD
rs131230793994G>RgnomAD
rs180329994G>VgnomAD
rs144829912695S>PgnomAD
rs158196049297T>PEnsembl
rs143991631998N>SgnomAD
rs143991631998N>TgnomAD
rs129510032299T>IgnomAD
rs1351468584100N>SgnomAD
rs1246656395102G>SEnsembl
rs2151065172102G>VEnsembl
rs932958368103I>TEnsembl
rs1581960449103I>VEnsembl
rs922966521104C>YgnomAD
rs1384786432105H>RgnomAD
rs1193349641106D>NTOPMed
rs748533143107A>SExAC
gnomAD
COSV52566647
rs748533143
107A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
dbSNP
gnomAD
rs1177205190108G>EgnomAD
rs1251323028108G>RgnomAD
VAR_047105
rs41270082
109R>C
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs41270082109R>G1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSV52565739
rs780396671
109R>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
dbSNP
gnomAD
COSV52565930
rs41270082
109R>Scosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1223621708110S>PgnomAD
rs373598060111K>NESP
ExAC
TOPMed
gnomAD
rs1358326942111K>RgnomAD
COSV99463606
COSV99463606,COSV99463707
COSV99463707
113*>=
Variant assessed as Somatic; LOW impact. (NCI-TCGA)
NCI-TCGA Cosmic
rs1304784652113*>CTOPMed
rs898044867113*>RTOPMed
COSV99463606
COSV99463606,COSV99463707
COSV99463707
113*>S
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
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