Q01469 · FABP5_HUMAN

  • Protein
    Fatty acid-binding protein 5
  • Gene
    FABP5
  • Status
    UniProtKB reviewed (Swiss-Prot)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    5/5

Variants

1135102030405060708090100110120130
GAVLISTCMDNEQRKHFYWPd*GAVLISTCMDNEQRKHFYWPd*
Variant
ID(s)
Position(s)ChangeDescriptionClinical
significance
Provenance
COSV99793153
rs1807808951
2A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
TOPMed
rs11896414513T>ITOPMed
gnomAD
rs7572856005Q>*ExAC
TOPMed
gnomAD
rs14547154475Q>HgnomAD
rs7572856005Q>KExAC
TOPMed
gnomAD
rs13065761385Q>PTOPMed
gnomAD
rs13065761385Q>RTOPMed
gnomAD
rs13203016836Q>HgnomAD
rs11760903126Q>RgnomAD
rs13789856538E>KTOPMed
gnomAD
rs11602527249G>EgnomAD
rs7653800889G>RVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs75051652112R>HExAC
TOPMed
gnomAD
rs131114642114V>EgnomAD
rs75861254916S>CExAC
gnomAD
rs75861254916S>GExAC
gnomAD
rs136961873518G>AgnomAD
rs132343543618G>SgnomAD
rs36964934120D>ETOPMed
rs144093191120D>NgnomAD
rs180781022020D>VTOPMed
rs78020383523M>VExAC
gnomAD
rs134040163725E>DgnomAD
rs122304974525E>KTOPMed
gnomAD
rs128471641426L>IgnomAD
rs128471641426L>VgnomAD
rs77393432127G>EExAC
TOPMed
gnomAD
rs121712250728V>ETOPMed
gnomAD
rs125113070728V>MTOPMed
gnomAD
rs76447225029G>EExAC
TOPMed
gnomAD
rs76097272829G>RExAC
rs180786506630I>TEnsembl
rs147204841231A>DgnomAD
rs147204841231A>GgnomAD
rs37767310233R>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs141677163533R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
dbSNP
gnomAD
rs14019671334K>EEnsembl
rs76228522736G>DExAC
TOPMed
gnomAD
rs37298958037A>SESP
ExAC
TOPMed
gnomAD
rs37298958037A>TESP
ExAC
TOPMed
gnomAD
rs140880206138M>ITOPMed
gnomAD
rs75176231138M>VgnomAD
COSV9979301342D>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs14577488144I>F1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs75183923444I>SExAC
gnomAD
COSV99793062
rs145774881
44I>Vcosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs180786594350K>RTOPMed
COSV99793028
rs1235407356
51N>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
dbSNP
gnomAD
rs75259136953T>AExAC
gnomAD
rs75259136953T>SExAC
gnomAD
COSV51917621
rs756048082
54I>Vcosmic curated
ExAC
gnomAD
rs77763838755K>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ExAC
TOPMed
dbSNP
gnomAD
rs121068231758S>NgnomAD
rs180786646760L>STOPMed
rs77036208861K>QExAC
gnomAD
rs77849536863T>AExAC
TOPMed
gnomAD
rs147483150263T>KgnomAD
rs14075723165F>SExAC
gnomAD
rs14075723165F>YExAC
gnomAD
rs142162527166S>PgnomAD
rs77176156868T>IExAC
gnomAD
rs77176156868T>NExAC
gnomAD
rs119697822972K>NTOPMed
rs77694933872K>TExAC
gnomAD
rs14554616573F>LEnsembl
rs115877240473F>YgnomAD
rs141633707974E>KTOPMed
gnomAD
rs131657298975E>ATOPMed
gnomAD
rs76214864276T>IExAC
TOPMed
gnomAD
rs122829684278A>TgnomAD
rs14131541979D>NEnsembl
rs88610304879D>VgnomAD
rs77031766980G>SExAC
gnomAD
rs180786780481R>GTOPMed
rs180786789183T>PTOPMed
rs14145364386V>AEnsembl
rs77005547886V>LExAC
gnomAD
rs77373217188N>DExAC
TOPMed
gnomAD
COSV51917186
rs763394711
88N>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
rs180787238089F>CEnsembl
rs180787234589F>VTOPMed
gnomAD
rs20183038990T>A1000Genomes
gnomAD
rs77161841690T>IExAC
gnomAD
rs77454481991D>GExAC
gnomAD
rs146102477891D>NgnomAD
rs19975862692G>RTOPMed
rs137322353192G>VgnomAD
rs75975779593A>TExAC
gnomAD
rs213126905894L>SEnsembl
rs20006541095V>I1000Genomes
ExAC
gnomAD
COSV107384416
rs1807872903
97H>Lcosmic curated
Ensembl
rs15085556397H>NBenign (Ensembl)1000Genomes
ESP
ExAC
TOPMed
gnomAD
RCV000891954
rs150855563
97H>YBenign (Ensembl, ClinVar)ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs124160999098Q>RgnomAD
rs13932515999E>*Ensembl
rs142936320100W>C1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1261575935101D>A
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
TOPMed
dbSNP
gnomAD
rs1212580058101D>EgnomAD
rs763815393101D>NExAC
gnomAD
COSV51917146
COSV99793164
rs1190690497
102G>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
dbSNP
gnomAD
COSV51917364104E>D
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs753714375104E>KExAC
gnomAD
COSV51917918
rs757111208
105S>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
rs749917972107I>TExAC
gnomAD
rs765225550107I>VExAC
gnomAD
rs757793202108T>AExAC
TOPMed
gnomAD
rs1807873643108T>RTOPMed
rs368489863109R>TESP
ExAC
gnomAD
rs1807873999113D>ATOPMed
gnomAD
rs201120689113D>N1000Genomes
ExAC
gnomAD
rs201120689113D>Y1000Genomes
ExAC
gnomAD
COSV51917500
rs1393545719
114G>Ecosmic curated
gnomAD
rs75108814114G>RExAC
TOPMed
gnomAD
rs376469447115K>EESP
ExAC
gnomAD
rs889947968115K>REnsembl
rs745885500116L>FExAC
TOPMed
gnomAD
COSV51917138116L>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs772284450117V>MExAC
gnomAD
rs1293462991118V>GgnomAD
rs1807881738119E>DTOPMed
rs200536503120C>F1000Genomes
TOPMed
rs780969092121V>IExAC
gnomAD
rs544263962122M>I1000Genomes
ExAC
rs1239471925122M>VgnomAD
rs779497353124N>DExAC
gnomAD
rs779497353124N>HExAC
gnomAD
CA235536
COSV107384417
RCV000162280
rs431905491
124N>SClinGen
cosmic curated
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs779497353124N>YExAC
gnomAD
rs775400916126T>AExAC
gnomAD
rs747179299126T>IExAC
TOPMed
rs747179299126T>NExAC
TOPMed
rs1420146943128T>ITOPMed
rs201701039129R>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
TOPMed
dbSNP
gnomAD
COSV107384421
rs1407377015
129R>Wcosmic curated
gnomAD
rs1442070244131Y>CTOPMed
gnomAD
rs768747325131Y>HExAC
gnomAD
rs776920520132E>VExAC
TOPMed
gnomAD
rs377430148133K>REnsembl
TCGA novel133K>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
rs1014744861135E>QTOPMed
rs1807882810136*>LTOPMed
gnomAD
COSV51917512136*>Y
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
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