F5H6U7 · F5H6U7_HUMAN

  • Protein
    Golgi transport 1B
  • Gene
    GOLT1B
  • Status
    UniProtKB unreviewed (TrEMBL)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    2/5

Variants

1128102030405060708090100110120
GAVLISTCMDNEQRKHFYWPd*GAVLISTCMDNEQRKHFYWPd*
Variant
ID(s)
Position(s)ChangeDescriptionClinical
significance
Provenance
COSV575534721M>?cosmic curated
rs14258382912I>FTOPMed
gnomAD
rs7668112102I>MExAC
gnomAD
rs7671138813S>FgnomAD
rs14637440824L>VgnomAD
rs15917585995T>AEnsembl
COSV575530736D>Ncosmic curated
rs13969573806D>YgnomAD
rs14456954707T>MTOPMed
gnomAD
rs12954018269K>RTOPMed
gnomAD
rs76705256510I>TExAC
TOPMed
gnomAD
COSV5755362712M>Icosmic curated
COSV57553920
rs1943682734
12M>Vcosmic curated
TOPMed
COSV9998195415T>Acosmic curated
rs76017328315T>SExAC
gnomAD
rs131973686216G>RTOPMed
COSV5755324917F>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs19977712419V>MgnomAD
rs140442306921F>LTOPMed
gnomAD
rs86752106423F>LEnsembl
rs76631851623F>LExAC
gnomAD
COSV5755331225G>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs122911642629F>CEnsembl
rs194368307830F>VTOPMed
COSV99982006
rs1943683102
32K>E
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
Ensembl
rs20149298232K>R1000Genomes
ExAC
TOPMed
gnomAD
rs127650497633A>TTOPMed
gnomAD
rs76512225833A>VExAC
gnomAD
rs134115622335L>PTOPMed
rs77785718337I>TExAC
gnomAD
rs130062144337I>VTOPMed
COSV5755316538G>Vcosmic curated
rs20031864640V>I1000Genomes
ExAC
gnomAD
rs77617945741L>FExAC
gnomAD
COSV5755310841L>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs126045113344A>VTOPMed
COSV57553317
rs1405751490
45G>Scosmic curated
gnomAD
rs76282497949V>IExAC
TOPMed
gnomAD
rs76282497949V>LExAC
TOPMed
gnomAD
rs123098000451G>DgnomAD
rs76393756055T>AExAC
TOPMed
gnomAD
rs135431412755T>IgnomAD
rs91529334456F>CTOPMed
rs121534576457R>KgnomAD
COSV5755297358F>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV9998214261Q>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs37298240962K>NESP
TOPMed
rs94545195064K>EgnomAD
rs75136654264K>NVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
COSV5755372764K>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs194369473165M>IEnsembl
rs76217369065M>VExAC
COSV5755304266K>Icosmic curated
rs76783692567A>PExAC
TOPMed
gnomAD
rs126714835968T>SgnomAD
COSV9998191969G>Ccosmic curated
rs133141108270F>LgnomAD
rs122696405271F>ITOPMed
gnomAD
COSV9998198671F>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV9998186572L>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV9998200273G>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV9998211974G>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs194369499580I>VEnsembl
rs78062372881G>DExAC
TOPMed
gnomAD
rs136746987783P>SgnomAD
COSV5755439784L>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs37711286884L>MESP
TOPMed
COSV57554012
rs1365815047
85I>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
dbSNP
gnomAD
COSV5755402586G>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs126785410487M>ITOPMed
gnomAD
rs54942024787M>V1000Genomes
ExAC
gnomAD
COSV9998210488I>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV5755381389F>Lcosmic curated
TCGA novel
rs1943695386
90E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
TOPMed
COSV5755391391I>Mcosmic curated
COSV5755304091I>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs104914637491I>TTOPMed
gnomAD
rs88790722192Y>HTOPMed
gnomAD
rs77930087093G>AExAC
gnomAD
COSV5755373494F>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV5755363195F>Icosmic curated
COSV5755342796L>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs130887574696L>PgnomAD
rs194369562297L>STOPMed
gnomAD
rs194369560297L>VTOPMed
COSV5755310298F>Lcosmic curated
rs758707935100G>CExAC
gnomAD
rs1943725602100G>VTOPMed
rs780924167101F>CExAC
gnomAD
rs1943725669102F>LTOPMed
gnomAD
rs1591763133103P>REnsembl
COSV57554469103P>Scosmic curated
COSV57553131
rs34378602
105V>Icosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs748790942106V>AExAC
TOPMed
gnomAD
rs1401468123106V>FgnomAD
rs774362850110R>KExAC
gnomAD
COSV57553909111R>Kcosmic curated
COSV57554047111R>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1943726134112V>EEnsembl
COSV57553410
rs747969282
112V>Lcosmic curated
ExAC
gnomAD
rs747969282112V>MExAC
gnomAD
rs1943726189113P>LgnomAD
COSV57552982114V>A
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1943726237115L>VTOPMed
rs1943726255117S>CEnsembl
rs760856561119L>VExAC
TOPMed
gnomAD
COSV57553026121L>*cosmic curated
rs766612381121L>VExAC
gnomAD
rs1194677848122P>HgnomAD
COSV99982147124I>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs1262816376124I>TgnomAD
COSV107212795
rs2136809258
125R>Kcosmic curated
Ensembl
rs74067037126S>L1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1478199766127T>NgnomAD
rs1190396752128T>ATOPMed
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