C9JUH5 · C9JUH5_HUMAN

  • Protein
    Stress-associated endoplasmic reticulum protein
  • Gene
    SERP1
  • Status
    UniProtKB unreviewed (TrEMBL)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    2/5

Variants

17810203040506070
MVAKQRIRMANEKHSKNITQRGNVAKTSRNAPEEKASVGPWLLALFIFVVCGSGKWLGGSHQVESWVERIWDDVVTGQ
GAVLISTCMDNEQRKHFYWPd*GAVLISTCMDNEQRKHFYWPd*
Variant
ID(s)
Position(s)ChangeDescriptionClinical
significance
Provenance
rs13234462564K>NgnomAD
rs9516279694K>TTOPMed
rs13237559415Q>EgnomAD
rs7618091415Q>HExAC
TOPMed
gnomAD
rs17230009155Q>RTOPMed
gnomAD
rs7764758097I>MExAC
TOPMed
gnomAD
rs1923134878R>GEnsembl
rs11597274558R>HgnomAD
rs11597274558R>PgnomAD
rs7681927979M>KExAC
gnomAD
rs14681669239M>LTOPMed
gnomAD
rs14681669239M>VTOPMed
gnomAD
rs76013048010A>DExAC
TOPMed
gnomAD
rs76013048010A>VExAC
TOPMed
gnomAD
rs74553233411N>KExAC
gnomAD
rs77164547511N>SExAC
TOPMed
gnomAD
rs77164547511N>TExAC
TOPMed
gnomAD
COSV5352567213K>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs121328885913K>RTOPMed
gnomAD
rs128661987615S>GgnomAD
rs77012117615S>NExAC
gnomAD
rs74532531115S>RgnomAD
rs123720343917N>KgnomAD
rs130476317217N>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
dbSNP
gnomAD
rs129497203318I>SgnomAD
rs74865622319T>IExAC
TOPMed
gnomAD
rs78159680620Q>*ExAC
gnomAD
rs99879643921R>GEnsembl
rs15092697923N>SESP
TOPMed
gnomAD
rs75552876224V>AExAC
gnomAD
COSV105852308
rs751645465
25A>Scosmic curated
ExAC
TOPMed
gnomAD
rs78028128527T>IExAC
TOPMed
gnomAD
rs78028128527T>NExAC
TOPMed
gnomAD
rs115920086427T>STOPMed
gnomAD
COSV99065392
rs1722997096
28S>Lcosmic curated
gnomAD
COSV5352572629R>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs19998815030N>K1000Genomes
rs148474450230N>STOPMed
gnomAD
rs137214689431A>TTOPMed
rs75859570131A>VExAC
gnomAD
rs77895561632P>AVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs127140068532P>LgnomAD
rs77895561632P>SVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs86870370635K>EEnsembl
rs172298082236A>TgnomAD
rs131684673236A>VgnomAD
COSV53526402
rs1722980360
37S>Fcosmic curated
gnomAD
rs141604289738V>LgnomAD
rs103609237039G>EEnsembl
rs130216713540P>SgnomAD
COSV99526542
COSV99526543
41W>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs119646177044A>VTOPMed
gnomAD
COSV5352585145L>Rcosmic curated
rs75269876545L>VExAC
gnomAD
rs75909428946F>LExAC
gnomAD
rs77393070347I>VExAC
gnomAD
COSV9952655548F>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV5352657451C>G
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs145908803054G>DTOPMed
rs172297799756W>*TOPMed
rs125561735757L>FgnomAD
rs117826883557L>PTOPMed
gnomAD
rs76590605658G>RExAC
TOPMed
gnomAD
rs157658202458G>VEnsembl
rs76590605658G>WExAC
TOPMed
gnomAD
rs146921047159G>RgnomAD
rs127338581359G>VgnomAD
rs76266711260S>YExAC
gnomAD
rs157658199661H>PEnsembl
rs210788773261H>QEnsembl
COSV5352665461H>Rcosmic curated
rs172297684561H>YTOPMed
rs76921393362Q>*ExAC
gnomAD
rs172297659562Q>RTOPMed
gnomAD
rs157658199063V>GEnsembl
rs172297652163V>ITOPMed
rs77619107064E>DExAC
TOPMed
gnomAD
rs74749108464E>KExAC
TOPMed
gnomAD
rs74749108464E>QExAC
TOPMed
gnomAD
rs37489349365S>FESP
ExAC
gnomAD
COSV5352544265S>Ycosmic curated
rs172297568566W>*Ensembl
rs37019442466W>*ESP
TOPMed
gnomAD
rs37019442466W>SESP
TOPMed
gnomAD
rs157658198067V>GEnsembl
rs146012576272D>ETOPMed
gnomAD
rs74589668872D>GExAC
TOPMed
gnomAD
rs140184214674V>ETOPMed
gnomAD
rs140184214674V>GTOPMed
gnomAD
rs157658196675V>GEnsembl
rs52769274776T>I1000Genomes
ExAC
TOPMed
gnomAD
rs117860664577G>RgnomAD
rs117860664577G>SgnomAD
rs145496043678Q>RgnomAD
rs77753952879*>WExAC
TOPMed
gnomAD
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