C9JJ23 · C9JJ23_HUMAN

  • Protein
    6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4
  • Gene
    PFKFB4
  • Status
    UniProtKB unreviewed (TrEMBL)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    1/5

Variants

1129102030405060708090100110120
GAVLISTCMDNEQRKHFYWPd*GAVLISTCMDNEQRKHFYWPd*
Variant
ID(s)
Position(s)ChangeDescriptionClinical
significance
Provenance
rs5532521682R>K1000Genomes
TOPMed
gnomAD
rs20434013593A>VEnsembl
rs5342619064R>TExAC
TOPMed
gnomAD
rs13045173375D>ETOPMed
gnomAD
rs12166829696S>FEnsembl
rs13735908877T>IgnomAD
rs13906754437T>PTOPMed
gnomAD
rs13906754437T>STOPMed
gnomAD
rs13643670308G>EgnomAD
rs14025231148G>RTOPMed
gnomAD
rs12745501209H>RTOPMed
rs20434008609H>YgnomAD
rs77027212710P>LExAC
TOPMed
gnomAD
rs57072372510P>S1000Genomes
ExAC
gnomAD
rs57072372510P>T1000Genomes
ExAC
gnomAD
rs55232483011L>Q1000Genomes
ExAC
TOPMed
gnomAD
rs55232483011L>R1000Genomes
ExAC
TOPMed
gnomAD
rs204340004812M>LTOPMed
rs126962361114R>*gnomAD
rs122481883714R>ITOPMed
gnomAD
rs122481883714R>KTOPMed
gnomAD
rs125895258716Q>HTOPMed
gnomAD
rs204339983916Q>RTOPMed
rs131733967817T>MTOPMed
gnomAD
rs103953407717T>STOPMed
gnomAD
rs142051795618L>PTOPMed
rs95685551219G>RTOPMed
gnomAD
rs14517711820Q>*1000Genomes
ExAC
TOPMed
gnomAD
rs204339943721H>LTOPMed
gnomAD
rs128335891122L>ITOPMed
gnomAD
rs132054962523H>RTOPMed
rs204339929125E>GEnsembl
rs143335711726D>GTOPMed
gnomAD
rs204339917726D>NgnomAD
rs57016470328G>E1000Genomes
ExAC
TOPMed
gnomAD
rs90546732528G>RTOPMed
gnomAD
rs90546732528G>WTOPMed
gnomAD
rs54838234729E>*1000Genomes
TOPMed
gnomAD
rs145479129129E>DTOPMed
gnomAD
rs54838234729E>K1000Genomes
TOPMed
gnomAD
rs54838234729E>Q1000Genomes
TOPMed
gnomAD
rs157540974230W>GEnsembl
rs204339881431E>KEnsembl
rs75334739333T>IExAC
TOPMed
gnomAD
rs204339868334C>RTOPMed
rs76365573235E>DExAC
gnomAD
rs148019298336V>MgnomAD
COSV51680738
rs1391291661
38M>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
dbSNP
gnomAD
rs139129166138M>VgnomAD
rs37422286540N>HESP
ExAC
TOPMed
gnomAD
rs131258517840N>STOPMed
rs124285928842P>LgnomAD
rs78016486642P>TExAC
TOPMed
gnomAD
rs75821457644L>FExAC
TOPMed
gnomAD
rs75821457644L>VExAC
TOPMed
gnomAD
rs15053366747M>IESP
ExAC
TOPMed
gnomAD
rs14612910547M>TESP
ExAC
TOPMed
gnomAD
rs75755304748V>MExAC
gnomAD
rs148344837749G>CgnomAD
COSV99219965
rs1276887975
49G>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
dbSNP
gnomAD
rs37225898352A>SExAC
TOPMed
gnomAD
rs37225898352A>TExAC
TOPMed
gnomAD
rs76419840253R>SExAC
gnomAD
rs76077405654G>AExAC
TOPMed
gnomAD
rs76077405654G>DExAC
TOPMed
gnomAD
rs76077405654G>VExAC
TOPMed
gnomAD
rs138085631755K>EgnomAD
rs204309326956T>SgnomAD
rs131690140462L>VgnomAD
rs53671065963T>A1000Genomes
ExAC
gnomAD
rs75995823664R>*ExAC
TOPMed
gnomAD
rs14797751764R>PESP
ExAC
TOPMed
gnomAD
rs142321888665Y>*gnomAD
rs122479996468W>CgnomAD
rs204309222770G>VTOPMed
rs204309211171V>EgnomAD
rs77117795872P>HExAC
TOPMed
gnomAD
COSV107226677
rs771177958
72P>Lcosmic curated
ExAC
TOPMed
gnomAD
rs156017764073T>NEnsembl
rs77645809674R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ExAC
TOPMed
dbSNP
gnomAD
COSV99219404
rs761570064
74R>W
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl)NCI-TCGA Cosmic
cosmic curated
ExAC
dbSNP
gnomAD
rs76045038975E>AExAC
gnomAD
rs76045038975E>VExAC
gnomAD
rs134385511477N>DgnomAD
rs125606571977N>SVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs204308220778V>AgnomAD
COSV51680968
rs1560177249
82R>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
dbSNP
gnomAD
rs75898885682R>HExAC
TOPMed
gnomAD
rs133515670683R>PgnomAD
COSV51680113
COSV99219681
rs1335156706
83R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
dbSNP
gnomAD
COSV51682889
rs201114950
83R>W
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
rs74921169385V>LExAC
TOPMed
gnomAD
COSV105082148
rs749211693
85V>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
rs14342844586V>LESP
ExAC
TOPMed
gnomAD
rs117962086289Y>CgnomAD
rs74789997691S>CExAC
gnomAD
rs204308015693E>*gnomAD
rs78129467894F>CExAC
gnomAD
rs119187861495F>YEnsembl
rs56940594998D>H1000Genomes
ExAC
TOPMed
gnomAD
COSV51681763
rs569405949
98D>Ncosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs156017709698D>VEnsembl
rs204307926099N>DEnsembl
rs120164004999N>STOPMed
gnomAD
rs1479347851100E>*gnomAD
rs2043078973101E>DTOPMed
gnomAD
rs770981607102G>AgnomAD
rs1273314087102G>SgnomAD
rs1344941561106R>GgnomAD
rs2042868588107K>NTOPMed
gnomAD
rs1020785000107K>REnsembl
rs1049577424108Q>*TOPMed
gnomAD
rs1349631795109C>YTOPMed
rs2042868056110A>STOPMed
gnomAD
rs2042868056110A>TTOPMed
gnomAD
rs947230350110A>VTOPMed
rs1328721965112A>TgnomAD
rs1269050279112A>VgnomAD
rs1273288705114L>FTOPMed
rs368835932115R>CESP
TOPMed
gnomAD
COSV99220091
rs147704999
115R>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs147704999115R>L1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs776351200117V>F1000Genomes
ExAC
TOPMed
gnomAD
COSV51679733
rs776351200
117V>Icosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
COSV51681436
rs375537794
118R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
cosmic curated
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs768472833118R>WExAC
TOPMed
gnomAD
rs745957312119R>Q1000Genomes
ExAC
gnomAD
COSV99219924
rs140464894
119R>W
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl)cosmic curated
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs779067127120F>VExAC
gnomAD
rs1300463585122S>GTOPMed
gnomAD
rs771632526122S>NExAC
gnomAD
rs1249014311122S>RTOPMed
gnomAD
rs2042865087123E>GgnomAD
rs1464694976124E>DTOPMed
gnomAD
rs1249056527125G>ATOPMed
gnomAD
rs1249056527125G>ETOPMed
gnomAD
rs1301741570125G>RTOPMed
rs970291168126G>*TOPMed
gnomAD
rs759005458126G>AExAC
gnomAD
rs759005458126G>VExAC
gnomAD
rs2042863710127H>DEnsembl
rs756534987129A>VExAC
TOPMed
gnomAD
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