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Entry version 143 (12 Aug 2020)
Sequence version 2 (10 Jan 2006)
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Protein

Olfactory receptor 6C3

Gene

OR6C3

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

Annotation score:3 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>
-Protein inferred from homologyi <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

Odorant receptor.Curated

<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

GO - Biological processi

<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

Molecular functionG-protein coupled receptor, Receptor, Transducer
Biological processOlfaction, Sensory transduction

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q9NZP0

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-381753, Olfactory Signaling Pathway

<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:
Olfactory receptor 6C3
Alternative name(s):
HSA8
<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:OR6C3
<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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<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 12

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000205329.1

Human Gene Nomenclature Database

More...
HGNCi
HGNC:15437, OR6C3

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9NZP0

<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

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 22ExtracellularSequence analysisAdd BLAST22
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei23 – 43Helical; Name=1Sequence analysisAdd BLAST21
Topological domaini44 – 51CytoplasmicSequence analysis8
Transmembranei52 – 72Helical; Name=2Sequence analysisAdd BLAST21
Topological domaini73 – 96ExtracellularSequence analysisAdd BLAST24
Transmembranei97 – 117Helical; Name=3Sequence analysisAdd BLAST21
Topological domaini118 – 136CytoplasmicSequence analysisAdd BLAST19
Transmembranei137 – 157Helical; Name=4Sequence analysisAdd BLAST21
Topological domaini158 – 194ExtracellularSequence analysisAdd BLAST37
Transmembranei195 – 214Helical; Name=5Sequence analysisAdd BLAST20
Topological domaini215 – 234CytoplasmicSequence analysisAdd BLAST20
Transmembranei235 – 255Helical; Name=6Sequence analysisAdd BLAST21
Topological domaini256 – 268ExtracellularSequence analysisAdd BLAST13
Transmembranei269 – 289Helical; Name=7Sequence analysisAdd BLAST21
Topological domaini290 – 311CytoplasmicSequence analysisAdd BLAST22

Keywords - Cellular componenti

Cell membrane, 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

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA32581

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9NZP0, Tdark

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
OR6C3

Domain mapping of disease mutations (DMDM)

More...
DMDMi
85541048

<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_00001506251 – 311Olfactory receptor 6C3Add BLAST311

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 and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi2N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi94 ↔ 186PROSITE-ProRule annotation

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

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

More...
PaxDbi
Q9NZP0

PRoteomics IDEntifications database

More...
PRIDEi
Q9NZP0

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
83470

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...
GlyGeni
Q9NZP0, 1 site

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9NZP0

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

More...
PhosphoSitePlusi
Q9NZP0

<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

Gene expression databases

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9NZP0, baseline and differential

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000205329, Not detected

<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

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000368989

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q9NZP0, protein

<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

<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 G-protein coupled receptor 1 family.PROSITE-ProRule annotation

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG502RDVH, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT01000000214358

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_012526_1_1_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9NZP0

KEGG Orthology (KO)

More...
KOi
K04257

Identification of Orthologs from Complete Genome Data

More...
OMAi
DYCASNI

Database of Orthologous Groups

More...
OrthoDBi
917809at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9NZP0

TreeFam database of animal gene trees

More...
TreeFami
TF336833

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR000276, GPCR_Rhodpsn
IPR017452, GPCR_Rhodpsn_7TM
IPR000725, Olfact_rcpt

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF13853, 7tm_4, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00237, GPCRRHODOPSN
PR00245, OLFACTORYR

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00237, G_PROTEIN_RECEP_F1_1, 1 hit
PS50262, G_PROTEIN_RECEP_F1_2, 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.

Q9NZP0-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MNHTMVTEFV LLGLSDDPDL QIVIFLFLFI TYILSVTGNL TIITLTFVDS
60 70 80 90 100
HLQTPMYFFL RNFSFLEISF TTVCIPRFLG AIITRNKTIS YNNCAAQLFF
110 120 130 140 150
FIFMGVTEFY ILTAMSYDRY VAICKPLHYT SIMNRKLCTL LVLCAWLSGF
160 170 180 190 200
LTIFPPLMLL LQLDYCASNV IDHFACDYFP LLQLSCSDTW LLEVIGFYFA
210 220 230 240 250
LVTLLFTLAL VILSYMYIIR TILRIPSASQ RKKAFSTCSS HMIVISISYG
260 270 280 290 300
SCIFMYANPS AKEKASLTKG IAILNTSVAP MLNPFIYTLR NQQVKQAFKN
310
VVHKVVFYAN Q
Length:311
Mass (Da):35,531
Last modified:January 10, 2006 - v2
<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:i1C5D41AA2738DA91
GO

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_05321869S → L. Corresponds to variant dbSNP:rs4318060Ensembl.1
Natural variantiVAR_053219133M → T. Corresponds to variant dbSNP:rs11835321Ensembl.1
Natural variantiVAR_034245234A → S. Corresponds to variant dbSNP:rs11832940Ensembl.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
AC122684 Genomic DNA No translation available.
AF179770 Genomic DNA Translation: AAF40353.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS31819.1

NCBI Reference Sequences

More...
RefSeqi
NP_473445.1, NM_054104.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000379667; ENSP00000368989; ENSG00000205329
ENST00000641364; ENSP00000493034; ENSG00000205329
ENST00000641740; ENSP00000493380; ENSG00000205329

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
254786

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:254786

UCSC genome browser

More...
UCSCi
uc010spj.2, human

Keywords - Coding sequence diversityi

Polymorphism

<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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Human Olfactory Receptor Data Exploratorium (HORDE)

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC122684 Genomic DNA No translation available.
AF179770 Genomic DNA Translation: AAF40353.1
CCDSiCCDS31819.1
RefSeqiNP_473445.1, NM_054104.1

3D structure databases

Database of comparative protein structure models

More...
ModBasei
Search...

SWISS-MODEL Interactive Workspace

More...
SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

STRINGi9606.ENSP00000368989

Protein family/group databases

Information system for G protein-coupled receptors (GPCRs)

More...
GPCRDBi
Search...

PTM databases

GlyGeniQ9NZP0, 1 site
iPTMnetiQ9NZP0
PhosphoSitePlusiQ9NZP0

Polymorphism and mutation databases

BioMutaiOR6C3
DMDMi85541048

Proteomic databases

PaxDbiQ9NZP0
PRIDEiQ9NZP0
ProteomicsDBi83470

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
58539, 48 antibodies

The DNASU plasmid repository

More...
DNASUi
254786

Genome annotation databases

EnsembliENST00000379667; ENSP00000368989; ENSG00000205329
ENST00000641364; ENSP00000493034; ENSG00000205329
ENST00000641740; ENSP00000493380; ENSG00000205329
GeneIDi254786
KEGGihsa:254786
UCSCiuc010spj.2, human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
254786
EuPathDBiHostDB:ENSG00000205329.1

GeneCards: human genes, protein and diseases

More...
GeneCardsi
OR6C3
HGNCiHGNC:15437, OR6C3
HPAiENSG00000205329, Not detected
neXtProtiNX_Q9NZP0
PharmGKBiPA32581

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG502RDVH, Eukaryota
GeneTreeiENSGT01000000214358
HOGENOMiCLU_012526_1_1_1
InParanoidiQ9NZP0
KOiK04257
OMAiDYCASNI
OrthoDBi917809at2759
PhylomeDBiQ9NZP0
TreeFamiTF336833

Enzyme and pathway databases

PathwayCommonsiQ9NZP0
ReactomeiR-HSA-381753, Olfactory Signaling Pathway

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
254786, 0 hits in 503 CRISPR screens

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
OR6C3

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

More...
GenomeRNAii
254786
PharosiQ9NZP0, Tdark

Protein Ontology

More...
PROi
PR:Q9NZP0
RNActiQ9NZP0, protein

Gene expression databases

ExpressionAtlasiQ9NZP0, baseline and differential

Family and domain databases

InterProiView protein in InterPro
IPR000276, GPCR_Rhodpsn
IPR017452, GPCR_Rhodpsn_7TM
IPR000725, Olfact_rcpt
PfamiView protein in Pfam
PF13853, 7tm_4, 1 hit
PRINTSiPR00237, GPCRRHODOPSN
PR00245, OLFACTORYR
PROSITEiView protein in PROSITE
PS00237, G_PROTEIN_RECEP_F1_1, 1 hit
PS50262, G_PROTEIN_RECEP_F1_2, 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 nameiOR6C3_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: Q9NZP0
<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: October 10, 2003
Last sequence update: January 10, 2006
Last modified: August 12, 2020
This is version 143 of the entry and version 2 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 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. 7-transmembrane G-linked receptors
    List of 7-transmembrane G-linked receptor entries
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. SIMILARITY comments
    Index of protein domains and families
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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