A0A087WTZ7 · A0A087WTZ7_HUMAN

  • Protein
    Pleckstrin homology like domain family B member 1
  • Gene
    PHLDB1
  • Status
    UniProtKB unreviewed (TrEMBL)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    1/5

Variants

120920406080100120140160180200
GAVLISTCMDNEQRKHFYWPd*GAVLISTCMDNEQRKHFYWPd*
Variant
ID(s)
Position(s)ChangeDescriptionClinical
significance
Provenance
rs2019293472D>E1000Genomes
ExAC
TOPMed
gnomAD
rs7828073233A>SExAC
TOPMed
gnomAD
COSV104420751
rs782807323
3A>Tcosmic curated
ExAC
TOPMed
gnomAD
rs19410153935N>HEnsembl
rs3686225205N>IExAC
gnomAD
rs7827445766R>GExAC
gnomAD
rs15550861476R>KgnomAD
rs19410190159I>REnsembl
rs136087444010G>DTOPMed
rs156539020713C>YEnsembl
rs213573527214Q>KEnsembl
rs155508620815T>IgnomAD
rs78190958216Q>KExAC
gnomAD
rs156539032917T>PEnsembl
rs78181080917T>STOPMed
gnomAD
rs137558244819V>ATOPMed
gnomAD
rs194102684020Q>HgnomAD
rs194102630420Q>RTOPMed
rs155508699122G>AgnomAD
rs155508697822G>RgnomAD
rs159145463223P>HEnsembl
rs194120362423P>SEnsembl
rs194120448124L>MTOPMed
rs78247144225D>NExAC
gnomAD
rs125174515625D>VTOPMed
rs14972974926L>PESP
TOPMed
gnomAD
rs37443617327I>FESP
ExAC
gnomAD
rs155508704728E>DgnomAD
COSV107416084
rs376321013
28E>Kcosmic curated
ESP
ExAC
TOPMed
gnomAD
rs37632101328E>QESP
ExAC
TOPMed
gnomAD
rs78264529729T>IExAC
gnomAD
rs155508706830G>DgnomAD
rs123399167132G>ETOPMed
gnomAD
rs133433331134K>ETOPMed
gnomAD
rs194121075935V>LEnsembl
COSV104420750
rs200067658
37T>Mcosmic curated
TOPMed
gnomAD
rs78218897138D>EExAC
gnomAD
rs159145514439K>NEnsembl
rs78241366739K>RExAC
TOPMed
gnomAD
rs155508715541H>YgnomAD
COSV61876529
rs782131435
44S>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
dbSNP
gnomAD
rs194121687647S>NEnsembl
rs78197347848G>RExAC
gnomAD
COSV61881421
rs1327961699
49R>*cosmic curated
TOPMed
gnomAD
rs78205986249R>LExAC
TOPMed
gnomAD
rs78205986249R>QExAC
TOPMed
gnomAD
rs139622785953A>TTOPMed
rs194121973754I>VgnomAD
COSV105257920
rs1555087244
55T>Icosmic curated
gnomAD
rs78189335355T>PExAC
gnomAD
rs94190131356L>ITOPMed
gnomAD
rs78254985256L>PExAC
gnomAD
rs94190131356L>VTOPMed
gnomAD
rs78277322058P>LVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs155508731461E>DTOPMed
gnomAD
rs194157368362G>ETOPMed
rs155508732462G>RgnomAD
rs155508892063R>KgnomAD
rs78271502864T>MExAC
TOPMed
gnomAD
rs133367291766I>TTOPMed
gnomAD
rs155508897067G>SgnomAD
rs78183184368S>FExAC
TOPMed
gnomAD
rs36793366870A>PVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs78271421271R>GExAC
gnomAD
rs116842514271R>KTOPMed
rs155508900872D>GEnsembl
rs155508902774S>*gnomAD
rs78254904274S>PExAC
rs78221181375L>PExAC
gnomAD
rs78249701078P>SExAC
TOPMed
gnomAD
COSV61882048
rs782206998
79G>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
rs78256183679G>SExAC
gnomAD
rs147171777281A>VTOPMed
gnomAD
rs194158458082P>LTOPMed
rs194158499284H>RgnomAD
rs78241428786Y>NExAC
TOPMed
gnomAD
rs78186473787I>MExAC
TOPMed
gnomAD
rs20181132888E>K1000Genomes
ExAC
TOPMed
gnomAD
rs194158649189N>KgnomAD
rs78237933190L>MExAC
gnomAD
rs78195095091R>GVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs15062902791R>Q1000Genomes
ExAC
TOPMed
gnomAD
rs78195095091R>WVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs78245683392G>DExAC
TOPMed
gnomAD
rs194158859192G>STOPMed
rs155508916893T>AgnomAD
rs155508917693T>NgnomAD
rs155508916893T>PgnomAD
rs132406080798P>AgnomAD
rs159146996299C>GEnsembl
rs78193349699C>SExAC
TOPMed
gnomAD
rs78193349699C>YExAC
TOPMed
gnomAD
rs782150012100G>SExAC
gnomAD
rs1555089241101N>SgnomAD
rs1941593803102A>TgnomAD
rs1941594650104T>NEnsembl
rs1555089284105I>MgnomAD
rs782087847108L>HExAC
TOPMed
gnomAD
rs1941597012109P>REnsembl
rs148436342110V>IVariant of uncertain significance (Ensembl)1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs148436342110V>LVariant of uncertain significance (Ensembl)1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs924612982111R>PTOPMed
gnomAD
rs924612982111R>QTOPMed
gnomAD
COSV61876405
COSV61882268
rs782448370
111R>W
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
rs782680892113P>RExAC
TOPMed
gnomAD
rs781911394114T>PExAC
gnomAD
COSV61881687
rs782655710
115R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl)NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
rs782508862115R>WExAC
TOPMed
gnomAD
COSV61881289
rs782211405
116L>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
dbSNP
gnomAD
rs782350650117T>IExAC
TOPMed
gnomAD
rs782554239118Q>RExAC
gnomAD
rs542460647119V>IExAC
gnomAD
rs761203746121T>MgnomAD
rs1478954093123L>FTOPMed
rs1478954093123L>VTOPMed
rs554632842124H>D1000Genomes
TOPMed
rs554632842124H>N1000Genomes
TOPMed
rs554632842124H>Y1000Genomes
TOPMed
rs1555099230126I>TgnomAD
rs573285812126I>V1000Genomes
gnomAD
rs1943564213127G>DEnsembl
rs1258197205127G>STOPMed
rs1943565381129A>PTOPMed
gnomAD
rs1040548913129A>VTOPMed
gnomAD
rs1261064996134P>LgnomAD
rs1943569444135T>ITOPMed
rs1943570003136S>LgnomAD
rs550661788137G>C1000Genomes
rs782313672140L>SExAC
gnomAD
rs781935608141C>YExAC
gnomAD
rs782422837143G>DExAC
TOPMed
gnomAD
rs782276038143G>SExAC
gnomAD
rs1555099576144Q>HgnomAD
rs781994336144Q>RExAC
TOPMed
gnomAD
rs1943602352147F>ITOPMed
rs782132059148L>FExAC
TOPMed
gnomAD
rs782132059148L>VExAC
TOPMed
gnomAD
COSV106507099
rs782735796
149R>Ccosmic curated
ExAC
gnomAD
COSV61881441
rs781967928
149R>Hcosmic curated
ExAC
gnomAD
rs781967928149R>LExAC
gnomAD
rs1943604538151N>STOPMed
rs1555099658152H>NTOPMed
gnomAD
rs782709269152H>PExAC
gnomAD
rs1555099687152H>QgnomAD
rs530111509153P>L1000Genomes
ExAC
TOPMed
gnomAD
rs1943606518154A>VgnomAD
rs375711165157K>EESP
ExAC
gnomAD
rs782482481157K>NExAC
TOPMed
gnomAD
rs782572817159M>TExAC
gnomAD
rs1257061534159M>VTOPMed
gnomAD
rs1943609136161S>GEnsembl
rs1943609808162M>KTOPMed
rs1212260831163I>TTOPMed
gnomAD
rs1943611532166G>EEnsembl
rs1382791675167G>DTOPMed
rs1246151131167G>RTOPMed
gnomAD
rs1335062695168R>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
dbSNP
gnomAD
rs368162598168R>QESP
ExAC
TOPMed
gnomAD
COSV61882401
rs2136070348
170P>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
Ensembl
rs267602716172P>SEnsembl
rs782309166173P>HExAC
gnomAD
rs782309166173P>RExAC
gnomAD
rs1555099904174Y>CEnsembl
rs1943617842175S>GgnomAD
rs1555099937177V>LgnomAD
rs1943618935179A>PTOPMed
gnomAD
rs1944051560181S>TgnomAD
rs1555102456183S>NTOPMed
gnomAD
rs961908209186N>STOPMed
gnomAD
rs782767250190T>AExAC
gnomAD
rs782767250190T>PExAC
gnomAD
rs777986609191P>REnsembl
rs781783643191P>SExAC
TOPMed
gnomAD
rs1482364398192Q>*TOPMed
rs1247204251194A>STOPMed
gnomAD
rs1247204251194A>TTOPMed
gnomAD
rs1282615343194A>VTOPMed
gnomAD
COSV61876830
rs782654049
196R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
COSV100616173
rs145152438
196R>W
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
cosmic curated
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1555102656197G>EgnomAD
rs1944061201198P>TEnsembl
rs782502548200A>PExAC
gnomAD
rs782646272201C>YExAC
gnomAD
rs1555102681202A>PgnomAD
rs782215373203S>GExAC
gnomAD
rs782215373203S>RExAC
gnomAD
rs782359369204H>DExAC
gnomAD
rs782595591206S>FExAC
TOPMed
gnomAD
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