H0YHB8 · H0YHB8_HUMAN

  • Protein
    Phosphofructokinase, muscle
  • Gene
    PFKM
  • Status
    UniProtKB unreviewed (TrEMBL)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    1/5

Variants

141510152025303540
XSLSGNQAVRLPLMECVQVTKDVTKAMDEKKFDEALKLRGR
GAVLISTCMDNEQRKHFYWPd*GAVLISTCMDNEQRKHFYWPd*
Variant
ID(s)
Position(s)ChangeDescriptionClinical
significance
Provenance
rs7699317146N>TExAC
gnomAD
rs7755646067Q>*ExAC
gnomAD
rs7632890397Q>HExAC
TOPMed
gnomAD
rs14060851928A>DVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs7688759648A>SExAC
gnomAD
rs7748055319V>LExAC
TOPMed
gnomAD
rs7748055319V>MExAC
TOPMed
gnomAD
CA6537179
COSV56657780
RCV000404608
rs762357629
10R>C
Glycogen storage disease, type VII (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinGen
cosmic curated
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs76814944710R>HVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs76814944710R>LVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
RCV001802373
rs1203659685
13L>P
Glycogen storage disease, type VII (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
gnomAD
rs101103737414M>IEnsembl
RCV002261936
RCV003095914
RCV004047422
rs930337550
19V>M
Glycogen storage disease, type VII (ClinVar)
Inborn genetic diseases (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
gnomAD
rs213597565222D>HEnsembl
rs141317740625K>ETOPMed
rs195037684025K>RTOPMed
rs76392820626A>DExAC
TOPMed
gnomAD
rs76392820626A>VExAC
TOPMed
gnomAD
COSV107349452
rs751471591
27M>Icosmic curated
ExAC
gnomAD
rs75722045228D>HExAC
gnomAD
rs75722045228D>NExAC
gnomAD
rs195037895731K>REnsembl
rs77994463732F>LExAC
gnomAD
rs144457893032F>YgnomAD
rs101003267433D>AgnomAD
rs75508723234E>KExAC
TOPMed
gnomAD
RCV000705427
rs531875148
35A>G
Glycogen storage disease, type VII (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs77918827035A>TExAC
TOPMed
gnomAD
rs53187514835A>VVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs195038075336L>PTOPMed
RCV001210553
rs1950380994
37K>E
Glycogen storage disease, type VII (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
RCV001203122
rs375592512
37K>R
Glycogen storage disease, type VII (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV002261938
rs2135976330
40G>VVariant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs77375174941R>GExAC
TOPMed
gnomAD
rs18713135841R>LVariant of uncertain significance (Ensembl)1000Genomes
ExAC
TOPMed
gnomAD
RCV000670080
rs187131358
41R>Q
Glycogen storage disease, type VII (ClinVar)
Variant of uncertain significance (Ensembl)ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
COSV99044414
rs773751749
41R>Wcosmic curated
ExAC
TOPMed
gnomAD
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