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UniProtKB - Q9NX57 (RAB20_HUMAN)

Entry version 174 (07 Apr 2021)
Sequence version 1 (01 Oct 2000)
Previous versions | rss
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Protein

Ras-related protein Rab-20

Gene

RAB20

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Plays a role in apical endocytosis/recycling. Plays a role in the maturation and acidification of phagosomes that engulf pathogens, such as S.aureus and M.tuberculosis. Plays a role in the fusion of phagosomes with lysosomes.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi12 – 19GTPBy similarity8
Nucleotide bindingi55 – 59GTPBy similarity5
Nucleotide bindingi113 – 116GTPBy similarity4

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • GTPase activity Source: GO_Central
  • GTP binding Source: UniProtKB-KW
Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processProtein transport, Transport
LigandGTP-binding, Nucleotide-binding

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9NX57

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-8873719, RAB geranylgeranylation

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Ras-related protein Rab-20
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:RAB20
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 13

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:18260, RAB20

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9NX57

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000139832.4

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Keywords - Cellular componenti

Cytoplasmic vesicle, Golgi apparatus, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

DisGeNET

More...DisGeNETi		55647

Open Targets

More...OpenTargetsi		ENSG00000139832

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA34110

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9NX57, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		RAB20

Domain mapping of disease mutations (DMDM)

More...DMDMi		20139805

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001212021 – 234Ras-related protein Rab-20Add BLAST234

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position(s) and the type of covalently attached lipid group(s).<p><a href='/help/lipid' target='_top'>More...</a></p>Lipidationi232S-geranylgeranyl cysteineBy similarity1
Lipidationi233S-geranylgeranyl cysteineBy similarity1

Keywords - PTMi

Lipoprotein, Prenylation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9NX57

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9NX57

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9NX57

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9NX57

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q9NX57

PeptideAtlas

More...PeptideAtlasi		Q9NX57

PRoteomics IDEntifications database

More...PRIDEi		Q9NX57

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		83044

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9NX57

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q9NX57

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Low or absent expression in normal pancreas and stronger expression in 15 of 18 exocrine pancreatic adenocarcinomas (at protein level).1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000139832, Expressed in secondary oocyte and 192 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9NX57, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000139832, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		120781, 15 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000267328

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9NX57, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q9NX57

Database of comparative protein structure models

More...ModBasei		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi33 – 41Effector regionBy similarity9

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the small GTPase superfamily. Rab family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0092, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000161024

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_041217_12_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9NX57

Identification of Orthologs from Complete Genome Data

More...OMAi		YGRILRY

Database of Orthologous Groups

More...OrthoDBi		1340129at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9NX57

TreeFam database of animal gene trees

More...TreeFami		TF331574

Family and domain databases

Conserved Domains Database

More...CDDi		cd04126, Rab20, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR027417, P-loop_NTPase
IPR041836, Rab20
IPR005225, Small_GTP-bd_dom
IPR001806, Small_GTPase

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00071, Ras, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF52540, SSF52540, 1 hit

TIGRFAMs; a protein family database

More...TIGRFAMsi		TIGR00231, small_GTP, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS51419, RAB, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

Q9NX57-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MRKPDSKIVL LGDMNVGKTS LLQRYMERRF PDTVSTVGGA FYLKQWRSYN 
        60         70         80         90        100
ISIWDTAGRE QFHGLGSMYC RGAAAIILTY DVNHRQSLVE LEDRFLGLTD 
       110        120        130        140        150
TASKDCLFAI VGNKVDLTEE GALAGQEKEE CSPNMDAGDR VSPRAPKQVQ 
       160        170        180        190        200
LEDAVALYKK ILKYKMLDEQ DVPAAEQMCF ETSAKTGYNV DLLFETLFDL 
       210        220        230 
VVPMILQQRA ERPSHTVDIS SHKPPKRTRS GCCA
Length:234
Mass (Da):26,277
Last modified:October 1, 2000 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iA0201E23BBF75DC8
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti62F → I in BAA91171 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_017158134N → S. Corresponds to variant dbSNP:rs426453Ensembl.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AJ272065 mRNA Translation: CAC81247.1
AK000436 mRNA Translation: BAA91163.1
AK000446 mRNA Translation: BAA91171.1
AL139385 Genomic DNA No translation available.
CH471085 Genomic DNA Translation: EAX09113.1
BC026025 mRNA Translation: AAH26025.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS9512.1

NCBI Reference Sequences

More...RefSeqi		NP_060287.1, NM_017817.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000267328; ENSP00000267328; ENSG00000139832

Database of genes from NCBI RefSeq genomes

More...GeneIDi		55647

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:55647

UCSC genome browser

More...UCSCi		uc001vqy.4, human

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ272065 mRNA Translation: CAC81247.1
AK000436 mRNA Translation: BAA91163.1
AK000446 mRNA Translation: BAA91171.1
AL139385 Genomic DNA No translation available.
CH471085 Genomic DNA Translation: EAX09113.1
BC026025 mRNA Translation: AAH26025.1
CCDSiCCDS9512.1
RefSeqiNP_060287.1, NM_017817.2

3D structure databases

SMRiQ9NX57
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi120781, 15 interactors
STRINGi9606.ENSP00000267328

PTM databases

iPTMnetiQ9NX57
PhosphoSitePlusiQ9NX57

Genetic variation databases

BioMutaiRAB20
DMDMi20139805

Proteomic databases

EPDiQ9NX57
jPOSTiQ9NX57
MassIVEiQ9NX57
MaxQBiQ9NX57
PaxDbiQ9NX57
PeptideAtlasiQ9NX57
PRIDEiQ9NX57
ProteomicsDBi83044

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		25565, 278 antibodies

The DNASU plasmid repository

More...DNASUi		55647

Genome annotation databases

EnsembliENST00000267328; ENSP00000267328; ENSG00000139832
GeneIDi55647
KEGGihsa:55647
UCSCiuc001vqy.4, human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		55647
DisGeNETi55647

GeneCards: human genes, protein and diseases

More...GeneCardsi		RAB20
HGNCiHGNC:18260, RAB20
HPAiENSG00000139832, Low tissue specificity
neXtProtiNX_Q9NX57
OpenTargetsiENSG00000139832
PharmGKBiPA34110
VEuPathDBiHostDB:ENSG00000139832.4

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0092, Eukaryota
GeneTreeiENSGT00940000161024
HOGENOMiCLU_041217_12_0_1
InParanoidiQ9NX57
OMAiYGRILRY
OrthoDBi1340129at2759
PhylomeDBiQ9NX57
TreeFamiTF331574

Enzyme and pathway databases

PathwayCommonsiQ9NX57
ReactomeiR-HSA-8873719, RAB geranylgeranylation

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		55647, 6 hits in 994 CRISPR screens

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		55647
PharosiQ9NX57, Tbio

Protein Ontology

More...PROi		PR:Q9NX57
RNActiQ9NX57, protein

Gene expression databases

BgeeiENSG00000139832, Expressed in secondary oocyte and 192 other tissues
GenevisibleiQ9NX57, HS

Family and domain databases

CDDicd04126, Rab20, 1 hit
InterProiView protein in InterPro
IPR027417, P-loop_NTPase
IPR041836, Rab20
IPR005225, Small_GTP-bd_dom
IPR001806, Small_GTPase
PfamiView protein in Pfam
PF00071, Ras, 1 hit
SUPFAMiSSF52540, SSF52540, 1 hit
TIGRFAMsiTIGR00231, small_GTP, 1 hit
PROSITEiView protein in PROSITE
PS51419, RAB, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiRAB20_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9NX57
Secondary accession number(s): Q5T9X5, Q9NX49
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 31, 2002
Last sequence update: October 1, 2000
Last modified: April 7, 2021
This is version 174 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human chromosome 13
    Human chromosome 13: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. SIMILARITY comments
    Index of protein domains and families
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