E5RG53 · E5RG53_HUMAN

  • Protein
    Minichromosome maintenance complex component 4
  • Gene
    MCM4
  • Status
    UniProtKB unreviewed (TrEMBL)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    1/5

Variants

1811020304050607080
MSSPASTPSRRGSRRGRATPAQTPRSEDARSSPSQRRRGEDSTSTGELQPMPTSPGVDLQSPAAQDVLFSSPPQMHSSVHH
GAVLISTCMDNEQRKHFYWPd*GAVLISTCMDNEQRKHFYWPd*
Variant
ID(s)
Position(s)ChangeDescriptionClinical
significance
Provenance
rs20908227782S>PTOPMed
CA4742140
RCV000422648
rs749871553
2S>WVariant of uncertain significance (Ensembl, ClinVar)ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs13423750334P>LTOPMed
gnomAD
rs7579782825A>GExAC
TOPMed
gnomAD
rs12132813895A>TgnomAD
rs7579782825A>VExAC
TOPMed
gnomAD
rs9404192617T>AgnomAD
rs9404192617T>PgnomAD
rs14231131608P>ATOPMed
rs7512964108P>LExAC
TOPMed
gnomAD
rs7512964108P>QExAC
TOPMed
gnomAD
rs7512964108P>RExAC
TOPMed
gnomAD
rs7547054959S>GVariant of uncertain significance (Ensembl)ExAC
gnomAD
rs7547054959S>RVariant of uncertain significance (Ensembl)ExAC
gnomAD
RCV001934685
rs780975597
10R>LVariant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs36903910211R>CVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
RCV000768261
RCV001772024
RCV004027213
rs369039102
11R>G
Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs158982614012G>DEnsembl
rs126487661312G>STOPMed
rs97237197513S>GEnsembl
rs74591103013S>IExAC
rs74591103013S>NExAC
rs77225147414R>GExAC
TOPMed
gnomAD
rs77557057714R>QExAC
gnomAD
rs91965119615R>CTOPMed
rs209082439616G>*Ensembl
rs11318823917R>SLikely benign (Ensembl)TOPMed
gnomAD
COSV105082648
rs2090824630
19T>Icosmic curated
TOPMed
rs209082463019T>NTOPMed
rs76096593820P>AExAC
TOPMed
gnomAD
rs93108550720P>HEnsembl
rs93108550720P>REnsembl
rs76096593820P>SExAC
TOPMed
gnomAD
rs209082505921A>DTOPMed
gnomAD
RCV001942760
rs769093390
21A>TVariant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs77716913622Q>EExAC
gnomAD
rs209082514422Q>HTOPMed
rs128140559723T>MVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs209082518323T>PVariant of uncertain significance (Ensembl)TOPMed
rs128140559723T>RVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs209082533424P>AgnomAD
RCV002012579
rs773938825
24P>LVariant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs77393882524P>RVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs138182963025R>LgnomAD
RCV001934322
rs2154504957
26S>NVariant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs158982658026S>REnsembl
rs209083450227E>DgnomAD
rs209083454828D>HEnsembl
rs209083454828D>NEnsembl
rs156382973729A>TEnsembl
COSV105082527
RCV001365024
rs1356892224
30R>KVariant of uncertain significance (Ensembl, ClinVar)cosmic curated
ClinVar
TOPMed
dbSNP
gnomAD
rs14469602631S>A1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs124261618731S>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
dbSNP
gnomAD
rs14469602631S>P1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSV100031916
RCV001347900
rs755898364
33P>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl, ClinVar)NCI-TCGA Cosmic
cosmic curated
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs75589836433P>RVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs75240259533P>SExAC
gnomAD
rs75367028534S>PExAC
TOPMed
gnomAD
rs209083522335Q>HEnsembl
rs144447721736R>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
TOPMed
dbSNP
gnomAD
rs75725176337R>CExAC
gnomAD
RCV001982641
RCV004043703
rs200577338
37R>HVariant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs20057733837R>LVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs147338232238R>GgnomAD
rs101988617739G>STOPMed
rs75516960440E>*ExAC
TOPMed
gnomAD
rs78156299740E>GExAC
gnomAD
COSV100031502
rs755169604
40E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
COSV50622829
rs1589826664
41D>Gcosmic curated
Ensembl
rs156382980442S>AEnsembl
rs158982667142S>FEnsembl
RCV002048843
RCV004044801
rs748390153
43T>IVariant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs209083596843T>PgnomAD
rs77364433545T>AExAC
TOPMed
gnomAD
rs209083637346G>RgnomAD
rs134102636648L>FgnomAD
rs209083647248L>MgnomAD
rs128358642449Q>KTOPMed
gnomAD
rs14788659250P>SVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs77476703051M>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl)ExAC
TOPMed
dbSNP
gnomAD
rs148656067251M>KgnomAD
rs2090836684
RCV001930656
51M>LVariant of uncertain significance (Ensembl)TOPMed
gnomAD
ClinVar
dbSNP
RCV001159742
RCV002070972
RCV004032844
rs200598421
53T>A
Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency (ClinVar)
Likely benign (Ensembl, ClinVar)ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs158982671253T>NEnsembl
rs20059842153T>PLikely benign (Ensembl)1000Genomes
ExAC
TOPMed
gnomAD
rs181379299255P>REnsembl
rs148913459556G>EVariant of uncertain significance (Ensembl)TOPMed
gnomAD
RCV001955960
rs577919855
57V>MVariant of uncertain significance (Ensembl, ClinVar)ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs125809960258D>ETOPMed
RCV001987649
rs1443322079
58D>GVariant of uncertain significance (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
gnomAD
RCV001946120
rs1258650632
58D>HVariant of uncertain significance (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
gnomAD
rs54538370759L>P1000Genomes
gnomAD
rs37518638761S>NgnomAD
rs37518638761S>TgnomAD
RCV001939256
rs564059293
62P>RVariant of uncertain significance (Ensembl, ClinVar)ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
RCV001928133
rs1034067956
62P>SVariant of uncertain significance (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
gnomAD
rs103406795662P>TVariant of uncertain significance (Ensembl)TOPMed
gnomAD
CA10631203
RCV000350595
rs886062974
63A>S
Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
RCV002041572
rs1464698644
64A>TVariant of uncertain significance (Ensembl, ClinVar)ClinVar
dbSNP
gnomAD
COSV50625686
rs761564070
64A>Vcosmic curated
ExAC
gnomAD
rs76520849265Q>HExAC
gnomAD
rs75045473566D>EExAC
TOPMed
gnomAD
RCV001964528
rs1056790
66D>HVariant of uncertain significance (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
rs138142919166D>VgnomAD
CA4742207
COSV50624000
RCV000390420
RCV001850921
RCV004022075
rs755044869
67V>M
Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency (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
dbSNP
gnomAD
rs78143822968L>PExAC
TOPMed
gnomAD
COSV50633197
rs189505289
71S>Icosmic curated
1000Genomes
TOPMed
gnomAD
rs18950528971S>T1000Genomes
TOPMed
gnomAD
rs132100437772P>HgnomAD
rs138712199373P>STOPMed
gnomAD
RCV001195736
rs1235010442
74Q>*
Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency (ClinVar)
Likely pathogenic (Ensembl, ClinVar)ClinVar
dbSNP
gnomAD
RCV001907708
rs1235010442
74Q>ELikely pathogenic (Ensembl)ClinVar
dbSNP
gnomAD
rs118328351974Q>HLikely benign (Ensembl)TOPMed
gnomAD
rs78120135075M>TTOPMed
rs75292240876H>PVariant of uncertain significance (Ensembl)ExAC
gnomAD
COSV100031597
RCV002042937
rs752922408
76H>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl, ClinVar)NCI-TCGA Cosmic
cosmic curated
ClinVar
ExAC
dbSNP
gnomAD
rs209083831176H>YgnomAD
rs75638585377S>CExAC
TOPMed
gnomAD
rs37022338379V>ALikely benign (Ensembl)ESP
TOPMed
gnomAD
rs120491188979V>LVariant of uncertain significance (Ensembl)gnomAD
rs75403315581H>YExAC
gnomAD
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