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UniProtKB - Q8TE56 (ATS17_HUMAN)
Protein
A disintegrin and metalloproteinase with thrombospondin motifs 17
Gene
ADAMTS17
Organism
Homo sapiens (Human)
Status
Functioni
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Metal bindingi | 201 | Zinc; in inhibited formBy similarity | 1 | |
Metal bindingi | 389 | Zinc; catalyticBy similarity | 1 | |
Active sitei | 390 | PROSITE-ProRule annotation | 1 | |
Metal bindingi | 393 | Zinc; catalyticBy similarity | 1 | |
Metal bindingi | 399 | Zinc; catalyticBy similarity | 1 |
GO - Molecular functioni
- metal ion binding Source: UniProtKB-KW
- metalloendopeptidase activity Source: GO_Central
GO - Biological processi
- extracellular matrix organization Source: GO_Central
Keywordsi
Molecular function | Hydrolase, Metalloprotease, Protease |
Ligand | Metal-binding, Zinc |
Enzyme and pathway databases
PathwayCommonsi | Q8TE56 |
Reactomei | R-HSA-5083635, Defective B3GALTL causes PpS R-HSA-5173214, O-glycosylation of TSR domain-containing proteins |
SignaLinki | Q8TE56 |
Protein family/group databases
MEROPSi | M12.027 |
Names & Taxonomyi
Protein namesi | Recommended name: A disintegrin and metalloproteinase with thrombospondin motifs 17 (EC:3.4.24.-)Short name: ADAM-TS 17 Short name: ADAM-TS17 Short name: ADAMTS-17 |
Gene namesi | Name:ADAMTS17 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:17109, ADAMTS17 |
MIMi | 607511, gene |
neXtProti | NX_Q8TE56 |
VEuPathDBi | HostDB:ENSG00000140470 |
Subcellular locationi
Extracellular region or secreted
- extracellular matrix By similarity
Extracellular region or secreted
- extracellular region Source: UniProtKB-KW
Other locations
- extracellular matrix Source: GO_Central
Keywords - Cellular componenti
Extracellular matrix, SecretedPathology & Biotechi
Involvement in diseasei
Weill-Marchesani syndrome 4 (WMS4)3 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive syndrome characterized by lenticular myopia, ectopia lentis, glaucoma, spherophakia and short stature. Brachydactyly and decreased joint flexibility are present in some patients.
Related information in OMIMKeywords - Diseasei
Deafness, DwarfismOrganism-specific databases
DisGeNETi | 170691 |
GeneReviewsi | ADAMTS17 |
MalaCardsi | ADAMTS17 |
MIMi | 613195, phenotype |
OpenTargetsi | ENSG00000140470 |
Orphaneti | 363992, Ichthyosis-short stature-brachydactyly-microspherophakia syndrome |
PharmGKBi | PA24543 |
Miscellaneous databases
Pharosi | Q8TE56, Tbio |
Genetic variation databases
BioMutai | ADAMTS17 |
DMDMi | 296434401 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 27 | Sequence analysisAdd BLAST | 27 | |
PropeptideiPRO_0000029198 | 28 – 223 | By similarityAdd BLAST | 196 | |
ChainiPRO_0000029199 | 224 – 1095 | A disintegrin and metalloproteinase with thrombospondin motifs 17Add BLAST | 872 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 167 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 308 ↔ 373 | By similarity | ||
Disulfide bondi | 348 ↔ 355 | By similarity | ||
Disulfide bondi | 367 ↔ 447 | By similarity | ||
Disulfide bondi | 406 ↔ 431 | By similarity | ||
Disulfide bondi | 476 ↔ 500 | By similarity | ||
Glycosylationi | 483 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 487 ↔ 508 | By similarity | ||
Disulfide bondi | 495 ↔ 527 | By similarity | ||
Disulfide bondi | 521 ↔ 532 | By similarity | ||
Disulfide bondi | 555 ↔ 592 | By similarity | ||
Disulfide bondi | 559 ↔ 597 | By similarity | ||
Disulfide bondi | 570 ↔ 582 | By similarity | ||
Glycosylationi | 785 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 790 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 832 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 839 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 873 ↔ 916 | By similarity | ||
Disulfide bondi | 877 ↔ 921 | By similarity | ||
Disulfide bondi | 888 ↔ 905 | By similarity | ||
Glycosylationi | 894 | N-linked (GlcNAc...) asparagineSequence analysis | 1 |
Post-translational modificationi
The precursor is cleaved by a furin endopeptidase.By similarity
Glycosylated. Can be O-fucosylated by POFUT2 on a serine or a threonine residue found within the consensus sequence C1-X2-(S/T)-C2-G of the TSP type-1 repeat domains where C1 and C2 are the first and second cysteine residue of the repeat, respectively. Fucosylated repeats can then be further glycosylated by the addition of a beta-1,3-glucose residue by the glucosyltransferase, B3GALTL. Fucosylation mediates the efficient secretion of ADAMTS family members. Also can be C-glycosylated with one or two mannose molecules on tryptophan residues within the consensus sequence W-X-X-W of the TPRs, and N-glycosylated. These other glycosylations can also facilitate secretion (By similarity).By similarity
Keywords - PTMi
Cleavage on pair of basic residues, Disulfide bond, Glycoprotein, ZymogenProteomic databases
jPOSTi | Q8TE56 |
MassIVEi | Q8TE56 |
PaxDbi | Q8TE56 |
PeptideAtlasi | Q8TE56 |
PRIDEi | Q8TE56 |
ProteomicsDBi | 74396 [Q8TE56-1] 74397 [Q8TE56-2] |
PTM databases
GlyGeni | Q8TE56, 7 sites |
iPTMneti | Q8TE56 |
PhosphoSitePlusi | Q8TE56 |
Expressioni
Tissue specificityi
Isoform 1 and isoform 2 are expressed at high levels in the lung, brain, whole eye and retina. Isoform 1 shows a weaker expression in the heart, kidney and skeletal muscle. Isoform 2 shows a weaker expression in the kidney, bone marrow and skeletal muscle. Isoform 1 and isoform 2 are expressed at high levels in the fetal heart, kidney, and whole eye, whereas a weak expression is seen in the fetal liver.1 Publication
Gene expression databases
Bgeei | ENSG00000140470, Expressed in stomach and 141 other tissues |
ExpressionAtlasi | Q8TE56, baseline and differential |
Genevisiblei | Q8TE56, HS |
Organism-specific databases
HPAi | ENSG00000140470, Tissue enhanced (lymphoid) |
Interactioni
Protein-protein interaction databases
BioGRIDi | 128083, 31 interactors |
IntActi | Q8TE56, 2 interactors |
STRINGi | 9606.ENSP00000268070 |
Miscellaneous databases
RNActi | Q8TE56, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 232 – 452 | Peptidase M12BPROSITE-ProRule annotationAdd BLAST | 221 | |
Domaini | 453 – 542 | DisintegrinAdd BLAST | 90 | |
Domaini | 543 – 598 | TSP type-1 1PROSITE-ProRule annotationAdd BLAST | 56 | |
Domaini | 800 – 860 | TSP type-1 2PROSITE-ProRule annotationAdd BLAST | 61 | |
Domaini | 861 – 922 | TSP type-1 3PROSITE-ProRule annotationAdd BLAST | 62 | |
Domaini | 925 – 968 | TSP type-1 4PROSITE-ProRule annotationAdd BLAST | 44 | |
Domaini | 972 – 1029 | TSP type-1 5PROSITE-ProRule annotationAdd BLAST | 58 | |
Domaini | 1045 – 1084 | PLACPROSITE-ProRule annotationAdd BLAST | 40 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 50 – 76 | DisorderedSequence analysisAdd BLAST | 27 | |
Regioni | 702 – 779 | SpacerAdd BLAST | 78 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 199 – 206 | Cysteine switchBy similarity | 8 |
Domaini
The conserved cysteine present in the cysteine-switch motif binds the catalytic zinc ion, thus inhibiting the enzyme. The dissociation of the cysteine from the zinc ion upon the activation-peptide release activates the enzyme.
Keywords - Domaini
Repeat, SignalPhylogenomic databases
eggNOGi | KOG3538, Eukaryota |
GeneTreei | ENSGT00940000158773 |
HOGENOMi | CLU_000660_8_0_1 |
InParanoidi | Q8TE56 |
OrthoDBi | 125522at2759 |
PhylomeDBi | Q8TE56 |
TreeFami | TF313537 |
Family and domain databases
Gene3Di | 2.20.100.10, 5 hits 3.40.390.10, 1 hit |
InterProi | View protein in InterPro IPR006586, ADAM_Cys-rich IPR013273, ADAMTS/ADAMTS-like IPR041645, ADAMTS_CR_2 IPR045371, ADAMTS_CR_3 IPR010294, ADAMTS_spacer1 IPR024079, MetalloPept_cat_dom_sf IPR001590, Peptidase_M12B IPR002870, Peptidase_M12B_N IPR010909, PLAC IPR000884, TSP1_rpt IPR036383, TSP1_rpt_sf IPR013087, Znf_C2H2_type |
Pfami | View protein in Pfam PF17771, ADAM_CR_2, 1 hit PF19236, ADAM_CR_3, 1 hit PF05986, ADAM_spacer1, 1 hit PF01562, Pep_M12B_propep, 1 hit PF01421, Reprolysin, 1 hit PF00090, TSP_1, 1 hit |
PRINTSi | PR01857, ADAMTSFAMILY |
SMARTi | View protein in SMART SM00608, ACR, 1 hit SM00209, TSP1, 5 hits |
SUPFAMi | SSF82895, SSF82895, 5 hits |
PROSITEi | View protein in PROSITE PS50215, ADAM_MEPRO, 1 hit PS50900, PLAC, 1 hit PS50092, TSP1, 5 hits PS00142, ZINC_PROTEASE, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketNote: Additional isoforms may exist.
This entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q8TE56-1) [UniParc]FASTAAdd to basket
Also known as: a
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MCDGALLPPL VLPVLLLLVW GLDPGTAVGD AAADVEVVLP WRVRPDDVHL
60 70 80 90 100
PPLPAAPGPR RRRRPRTPPA APRARPGERA LLLHLPAFGR DLYLQLRRDL
110 120 130 140 150
RFLSRGFEVE EAGAARRRGR PAELCFYSGR VLGHPGSLVS LSACGAAGGL
160 170 180 190 200
VGLIQLGQEQ VLIQPLNNSQ GPFSGREHLI RRKWSLTPSP SAEAQRPEQL
210 220 230 240 250
CKVLTEKKKP TWGRPSRDWR ERRNAIRLTS EHTVETLVVA DADMVQYHGA
260 270 280 290 300
EAAQRFILTV MNMVYNMFQH QSLGIKINIQ VTKLVLLRQR PAKLSIGHHG
310 320 330 340 350
ERSLESFCHW QNEEYGGARY LGNNQVPGGK DDPPLVDAAV FVTRTDFCVH
360 370 380 390 400
KDEPCDTVGI AYLGGVCSAK RKCVLAEDNG LNLAFTIAHE LGHNLGMNHD
410 420 430 440 450
DDHSSCAGRS HIMSGEWVKG RNPSDLSWSS CSRDDLENFL KSKVSTCLLV
460 470 480 490 500
TDPRSQHTVR LPHKLPGMHY SANEQCQILF GMNATFCRNM EHLMCAGLWC
510 520 530 540 550
LVEGDTSCKT KLDPPLDGTE CGADKWCRAG ECVSKTPIPE HVDGDWSPWG
560 570 580 590 600
AWSMCSRTCG TGARFRQRKC DNPPPGPGGT HCPGASVEHA VCENLPCPKG
610 620 630 640 650
LPSFRDQQCQ AHDRLSPKKK GLLTAVVVDD KPCELYCSPL GKESPLLVAD
660 670 680 690 700
RVLDGTPCGP YETDLCVHGK CQKIGCDGII GSAAKEDRCG VCSGDGKTCH
710 720 730 740 750
LVKGDFSHAR GTALKDSGKG SINSDWKIEL PGEFQIAGTT VRYVRRGLWE
760 770 780 790 800
KISAKGPTKL PLHLMVLLFH DQDYGIHYEY TVPVNRTAEN QSEPEKPQDS
810 820 830 840 850
LFIWTHSGWE GCSVQCGGGE RRTIVSCTRI VNKTTTLVND SDCPQASRPE
860 870 880 890 900
PQVRRCNLHP CQSRWVAGPW SPCSATCEKG FQHREVTCVY QLQNGTHVAT
910 920 930 940 950
RPLYCPGPRP AAVQSCEGQD CLSIWEASEW SQCSASCGKG VWKRTVACTN
960 970 980 990 1000
SQGKCDASTR PRAEEACEDY SGCYEWKTGD WSTCSSTCGK GLQSRVVQCM
1010 1020 1030 1040 1050
HKVTGRHGSE CPALSKPAPY RQCYQEVCND RINANTITSP RLAALTYKCT
1060 1070 1080 1090
RDQWTVYCRV IREKNLCQDM RWYQRCCQTC RDFYANKMRQ PPPNS
Computationally mapped potential isoform sequencesi
There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketH3BRA9 | H3BRA9_HUMAN | A disintegrin and metalloproteinase... | ADAMTS17 | 1,122 | Annotation score: | ||
H0YMH1 | H0YMH1_HUMAN | A disintegrin and metalloproteinase... | ADAMTS17 | 68 | Annotation score: | ||
H3BV94 | H3BV94_HUMAN | A disintegrin and metalloproteinase... | ADAMTS17 | 120 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 702 | V → A in BAD18500 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_057081 | 216 | S → L1 PublicationCorresponds to variant dbSNP:rs7496668EnsemblClinVar. | 1 | |
Natural variantiVAR_057082 | 482 | M → T1 PublicationCorresponds to variant dbSNP:rs28567966EnsemblClinVar. | 1 | |
Natural variantiVAR_064041 | 566 | R → T1 Publication | 1 | |
Natural variantiVAR_060317 | 1094 | N → S2 PublicationsCorresponds to variant dbSNP:rs2573652EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_040331 | 1 – 243 | Missing in isoform 2. 1 PublicationAdd BLAST | 243 | |
Alternative sequenceiVSP_040332 | 713 – 745 | ALKDS…VRYVR → GYIEAAVIPAGARRIRVVED KPAHSFLGKTQMT in isoform 2. 1 PublicationAdd BLAST | 33 | |
Alternative sequenceiVSP_040333 | 746 – 1095 | Missing in isoform 2. 1 PublicationAdd BLAST | 350 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AJ315735 mRNA Translation: CAC86016.1 DQ217943 Genomic DNA Translation: ABB70740.1 AK131344 mRNA Translation: BAD18500.1 AC015723 Genomic DNA No translation available. AC022710 Genomic DNA No translation available. AC084855 Genomic DNA No translation available. AC113187 Genomic DNA No translation available. |
CCDSi | CCDS10383.1 [Q8TE56-1] |
RefSeqi | NP_620688.2, NM_139057.3 [Q8TE56-1] XP_016877473.1, XM_017021984.1 [Q8TE56-2] |
Genome annotation databases
Ensembli | ENST00000268070.9; ENSP00000268070.4; ENSG00000140470.15 |
GeneIDi | 170691 |
KEGGi | hsa:170691 |
MANE-Selecti | ENST00000268070.9; ENSP00000268070.4; NM_139057.4; NP_620688.2 |
UCSCi | uc002bvv.2, human [Q8TE56-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AJ315735 mRNA Translation: CAC86016.1 DQ217943 Genomic DNA Translation: ABB70740.1 AK131344 mRNA Translation: BAD18500.1 AC015723 Genomic DNA No translation available. AC022710 Genomic DNA No translation available. AC084855 Genomic DNA No translation available. AC113187 Genomic DNA No translation available. |
CCDSi | CCDS10383.1 [Q8TE56-1] |
RefSeqi | NP_620688.2, NM_139057.3 [Q8TE56-1] XP_016877473.1, XM_017021984.1 [Q8TE56-2] |
3D structure databases
AlphaFoldDBi | Q8TE56 |
SMRi | Q8TE56 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 128083, 31 interactors |
IntActi | Q8TE56, 2 interactors |
STRINGi | 9606.ENSP00000268070 |
Protein family/group databases
MEROPSi | M12.027 |
PTM databases
GlyGeni | Q8TE56, 7 sites |
iPTMneti | Q8TE56 |
PhosphoSitePlusi | Q8TE56 |
Genetic variation databases
BioMutai | ADAMTS17 |
DMDMi | 296434401 |
Proteomic databases
jPOSTi | Q8TE56 |
MassIVEi | Q8TE56 |
PaxDbi | Q8TE56 |
PeptideAtlasi | Q8TE56 |
PRIDEi | Q8TE56 |
ProteomicsDBi | 74396 [Q8TE56-1] 74397 [Q8TE56-2] |
Protocols and materials databases
Antibodypediai | 29223, 88 antibodies from 26 providers |
DNASUi | 170691 |
Genome annotation databases
Ensembli | ENST00000268070.9; ENSP00000268070.4; ENSG00000140470.15 |
GeneIDi | 170691 |
KEGGi | hsa:170691 |
MANE-Selecti | ENST00000268070.9; ENSP00000268070.4; NM_139057.4; NP_620688.2 |
UCSCi | uc002bvv.2, human [Q8TE56-1] |
Organism-specific databases
CTDi | 170691 |
DisGeNETi | 170691 |
GeneCardsi | ADAMTS17 |
GeneReviewsi | ADAMTS17 |
HGNCi | HGNC:17109, ADAMTS17 |
HPAi | ENSG00000140470, Tissue enhanced (lymphoid) |
MalaCardsi | ADAMTS17 |
MIMi | 607511, gene 613195, phenotype |
neXtProti | NX_Q8TE56 |
OpenTargetsi | ENSG00000140470 |
Orphaneti | 363992, Ichthyosis-short stature-brachydactyly-microspherophakia syndrome |
PharmGKBi | PA24543 |
VEuPathDBi | HostDB:ENSG00000140470 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3538, Eukaryota |
GeneTreei | ENSGT00940000158773 |
HOGENOMi | CLU_000660_8_0_1 |
InParanoidi | Q8TE56 |
OrthoDBi | 125522at2759 |
PhylomeDBi | Q8TE56 |
TreeFami | TF313537 |
Enzyme and pathway databases
PathwayCommonsi | Q8TE56 |
Reactomei | R-HSA-5083635, Defective B3GALTL causes PpS R-HSA-5173214, O-glycosylation of TSR domain-containing proteins |
SignaLinki | Q8TE56 |
Miscellaneous databases
BioGRID-ORCSi | 170691, 14 hits in 1068 CRISPR screens |
ChiTaRSi | ADAMTS17, human |
GenomeRNAii | 170691 |
Pharosi | Q8TE56, Tbio |
PROi | PR:Q8TE56 |
RNActi | Q8TE56, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000140470, Expressed in stomach and 141 other tissues |
ExpressionAtlasi | Q8TE56, baseline and differential |
Genevisiblei | Q8TE56, HS |
Family and domain databases
Gene3Di | 2.20.100.10, 5 hits 3.40.390.10, 1 hit |
InterProi | View protein in InterPro IPR006586, ADAM_Cys-rich IPR013273, ADAMTS/ADAMTS-like IPR041645, ADAMTS_CR_2 IPR045371, ADAMTS_CR_3 IPR010294, ADAMTS_spacer1 IPR024079, MetalloPept_cat_dom_sf IPR001590, Peptidase_M12B IPR002870, Peptidase_M12B_N IPR010909, PLAC IPR000884, TSP1_rpt IPR036383, TSP1_rpt_sf IPR013087, Znf_C2H2_type |
Pfami | View protein in Pfam PF17771, ADAM_CR_2, 1 hit PF19236, ADAM_CR_3, 1 hit PF05986, ADAM_spacer1, 1 hit PF01562, Pep_M12B_propep, 1 hit PF01421, Reprolysin, 1 hit PF00090, TSP_1, 1 hit |
PRINTSi | PR01857, ADAMTSFAMILY |
SMARTi | View protein in SMART SM00608, ACR, 1 hit SM00209, TSP1, 5 hits |
SUPFAMi | SSF82895, SSF82895, 5 hits |
PROSITEi | View protein in PROSITE PS50215, ADAM_MEPRO, 1 hit PS50900, PLAC, 1 hit PS50092, TSP1, 5 hits PS00142, ZINC_PROTEASE, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | ATS17_HUMAN | |
Accessioni | Q8TE56Primary (citable) accession number: Q8TE56 Secondary accession number(s): Q2I7G4, Q6ZN75 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | February 28, 2003 |
Last sequence update: | May 18, 2010 | |
Last modified: | May 25, 2022 | |
This is version 169 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 15
Human chromosome 15: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot