H7C3T0 · H7C3T0_HUMAN

  • Protein
    COP9 signalosome subunit 6
  • Gene
    COPS6
  • Status
    UniProtKB unreviewed (TrEMBL)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    1/5

Variants

1123102030405060708090100110120
GAVLISTCMDNEQRKHFYWPd*GAVLISTCMDNEQRKHFYWPd*
Variant
ID(s)
Position(s)ChangeDescriptionClinical
significance
Provenance
COSV100385039
rs1795296243
2G>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
rs11792134584Y>HgnomAD
rs7736252335T>SExAC
gnomAD
rs11715973076T>IgnomAD
rs7496225027G>AExAC
gnomAD
rs7714712218G>WExAC
gnomAD
rs3765702599P>SESP
gnomAD
rs75931944411D>EExAC
TOPMed
gnomAD
rs211653666112P>REnsembl
COSV57993924
rs370286743
13S>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
cosmic curated
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs125336520216H>YgnomAD
rs76619052417V>IExAC
TOPMed
gnomAD
rs211653697823E>KEnsembl
rs135981236724I>LgnomAD
rs75618779127S>IExAC
gnomAD
rs179530145729L>FTOPMed
rs144705236630F>LgnomAD
rs77805731535P>AExAC
TOPMed
gnomAD
rs116010464535P>RTOPMed
rs77805731535P>SExAC
TOPMed
gnomAD
rs142104151636M>VTOPMed
gnomAD
rs138460584137T>SgnomAD
rs123730633639H>NTOPMed
gnomAD
rs158447939239H>QEnsembl
rs122116617340T>RgnomAD
rs75398034541D>VExAC
rs132611441143P>LgnomAD
rs146558448243P>STOPMed
rs116781347244V>IEnsembl
rs116781347244V>LEnsembl
rs77953798646V>IExAC
TOPMed
gnomAD
rs78034506653I>RExAC
gnomAD
rs37670627153I>VESP
ExAC
TOPMed
gnomAD
rs76823302154I>MExAC
gnomAD
rs78085713855N>SExAC
TOPMed
gnomAD
rs139681643756G>AgnomAD
rs116110328060M>VTOPMed
gnomAD
rs75536052263A>DExAC
gnomAD
rs37318569574A>VESP
ExAC
gnomAD
rs74883450875E>QExAC
gnomAD
rs135568073576R>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
dbSNP
gnomAD
COSV57998676
rs1795309638
76R>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
rs211653802086T>IEnsembl
COSV57999111
rs1262089538
87A>Tcosmic curated
gnomAD
rs143010103888T>IgnomAD
rs19392101190S>CVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs19392101190S>GVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
CA174533
COSV57994983
RCV000149188
rs193921011
90S>R
Malignant tumor of prostate (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinGen
cosmic curated
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs179531009390S>REnsembl
rs18382374491G>E1000Genomes
ExAC
gnomAD
rs136757017991G>RgnomAD
rs76218023592E>DExAC
TOPMed
gnomAD
rs20146618896V>A1000Genomes
rs37231992897A>TESP
TOPMed
gnomAD
rs1255127705101I>MTOPMed
gnomAD
rs1795312287104H>RgnomAD
rs1238120086104H>YTOPMed
gnomAD
rs1236013316108K>NgnomAD
rs1217802178112S>GTOPMed
gnomAD
rs753019844112S>NExAC
TOPMed
gnomAD
COSV100384752
rs558924563
114V>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
rs753564148115K>RExAC
gnomAD
rs1447900303117I>LEnsembl
rs1178807122119E>ATOPMed
gnomAD
rs747909039119E>DExAC
TOPMed
gnomAD
rs1421867634122P>LgnomAD
rs1187371557122P>STOPMed
gnomAD
rs771143512123L>VExAC
gnomAD
rs1795316468124*>QEnsembl
We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.
FeedbackHelp