Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Entry version 86 (08 May 2019)
Sequence version 3 (11 Jan 2011)
Previous versions | rss
Other tutorials and videosHelp videoFeedback
Protein

Uncharacterized protein C2orf73

Gene

C2orf73

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

Annotation score:2 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 transcript 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 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_and_taxonomy_section">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:
Uncharacterized protein C2orf73
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:C2orf73
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_manual">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 2

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:26861 C2orf73

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8N5S3

<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

Open Targets

More...
OpenTargetsi
ENSG00000177994

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA162379532

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
C2orf73

<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.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003322131 – 287Uncharacterized protein C2orf73Add BLAST287

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q8N5S3

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

More...
PaxDbi
Q8N5S3

PeptideAtlas

More...
PeptideAtlasi
Q8N5S3

PRoteomics IDEntifications database

More...
PRIDEi
Q8N5S3

ProteomicsDB human proteome resource

More...
ProteomicsDBi
72090
72091 [Q8N5S3-2]

PTM databases

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

More...
PhosphoSitePlusi
Q8N5S3

<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

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000177994 Expressed in 83 organ(s), highest expression level in right testis

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q8N5S3 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8N5S3 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA055221
HPA059596

<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
126212, 9 interactors

Protein interaction database and analysis system

More...
IntActi
Q8N5S3, 3 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000381631

<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

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IGYZ Eukaryota
ENOG4111RPT LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000005045

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000111332

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8N5S3

Identification of Orthologs from Complete Genome Data

More...
OMAi
IYYAKFI

Database of Orthologous Groups

More...
OrthoDBi
1586889at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8N5S3

TreeFam database of animal gene trees

More...
TreeFami
TF337686

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR031365 GDWWSH

The PANTHER Classification System

More...
PANTHERi
PTHR35087 PTHR35087, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF15667 GDWWSH, 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_length">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>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8N5S3-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MEEKEDKHQQ HKIEDAAITY VSENEEIKHE EKPGKSIHHS KSHVGRGRIY
60 70 80 90 100
YAKFINTNAR TYNEPFPYID PKKGPEIQGD WWSHGKALEP VFLPPYDSKS
110 120 130 140 150
TQRSDFQKPS CPLVLPVKHS KMQKPSCGIV PLASPGTSAE LQNNFIEYIS
160 170 180 190 200
FIHQYDARKT PNEPLQGKRH GAFVQREIKP GSRPTVPKGA EVLLNTPGSR
210 220 230 240 250
SSEQSKKTEK GNSAESRMIS PGLCQQNSQE LLEPKTHLSE TDVRQAAKAC
260 270 280
PSTPESREKT SGATQTTVGD ALFTRHKPLN PPIKKSE
Length:287
Mass (Da):32,142
Last modified:January 11, 2011 - v3
<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:i9AFD7EBA65BCE7C0
GO
Isoform 2 (identifier: Q8N5S3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-121: Missing.

Show »
Length:166
Mass (Da):18,091
Checksum:i3E753058BB0C4526
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E7ENW1E7ENW1_HUMAN
Uncharacterized protein C2orf73
C2orf73
211Annotation score:

Annotation score:1 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>
C9J598C9J598_HUMAN
Uncharacterized protein C2orf73
C2orf73
223Annotation score:

Annotation score:1 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>
B7ZM11B7ZM11_HUMAN
C2orf73 protein
C2orf73
70Annotation score:

Annotation score:1 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>
B5MBY8B5MBY8_HUMAN
Uncharacterized protein C2orf73
C2orf73
113Annotation score:

Annotation score:1 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>
H7C1Z5H7C1Z5_HUMAN
Uncharacterized protein C2orf73
C2orf73
82Annotation score:

Annotation score:1 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>
F8WD05F8WD05_HUMAN
Uncharacterized protein C2orf73
C2orf73
59Annotation score:

Annotation score:1 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>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAH31669 differs from that shown. Reason: Erroneous initiation.Curated

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_06157129H → N. Corresponds to variant dbSNP:rs55714450Ensembl.1
Natural variantiVAR_042973254P → L3 PublicationsCorresponds to variant dbSNP:rs2280718Ensembl.1
Natural variantiVAR_042974275R → T2 PublicationsCorresponds to variant dbSNP:rs13184Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0333531 – 121Missing in isoform 2. 2 PublicationsAdd BLAST121

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
AK097617 mRNA Translation: BAC05122.1
AC108929 Genomic DNA No translation available.
CH471053 Genomic DNA Translation: EAX00150.1
BC031669 mRNA Translation: AAH31669.1 Different initiation.
BC126244 mRNA Translation: AAI26245.1
BC126246 mRNA Translation: AAI26247.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS46285.1 [Q8N5S3-1]

NCBI Reference Sequences

More...
RefSeqi
NP_001093866.1, NM_001100396.1 [Q8N5S3-1]
XP_005264190.1, XM_005264133.1 [Q8N5S3-2]
XP_005264191.1, XM_005264134.3 [Q8N5S3-2]
XP_011530812.1, XM_011532510.2
XP_011530815.1, XM_011532513.2 [Q8N5S3-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000398634; ENSP00000381631; ENSG00000177994 [Q8N5S3-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
129852

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:129852

UCSC genome browser

More...
UCSCi
uc002rxt.1 human [Q8N5S3-1]

<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>Keywords - Coding sequence diversityi

Alternative splicing, 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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK097617 mRNA Translation: BAC05122.1
AC108929 Genomic DNA No translation available.
CH471053 Genomic DNA Translation: EAX00150.1
BC031669 mRNA Translation: AAH31669.1 Different initiation.
BC126244 mRNA Translation: AAI26245.1
BC126246 mRNA Translation: AAI26247.1
CCDSiCCDS46285.1 [Q8N5S3-1]
RefSeqiNP_001093866.1, NM_001100396.1 [Q8N5S3-1]
XP_005264190.1, XM_005264133.1 [Q8N5S3-2]
XP_005264191.1, XM_005264134.3 [Q8N5S3-2]
XP_011530812.1, XM_011532510.2
XP_011530815.1, XM_011532513.2 [Q8N5S3-2]

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

BioGridi126212, 9 interactors
IntActiQ8N5S3, 3 interactors
STRINGi9606.ENSP00000381631

PTM databases

PhosphoSitePlusiQ8N5S3

Polymorphism and mutation databases

BioMutaiC2orf73

Proteomic databases

jPOSTiQ8N5S3
PaxDbiQ8N5S3
PeptideAtlasiQ8N5S3
PRIDEiQ8N5S3
ProteomicsDBi72090
72091 [Q8N5S3-2]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
129852
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000398634; ENSP00000381631; ENSG00000177994 [Q8N5S3-1]
GeneIDi129852
KEGGihsa:129852
UCSCiuc002rxt.1 human [Q8N5S3-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
129852

GeneCards: human genes, protein and diseases

More...
GeneCardsi
C2orf73
HGNCiHGNC:26861 C2orf73
HPAiHPA055221
HPA059596
neXtProtiNX_Q8N5S3
OpenTargetsiENSG00000177994
PharmGKBiPA162379532

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IGYZ Eukaryota
ENOG4111RPT LUCA
GeneTreeiENSGT00390000005045
HOGENOMiHOG000111332
InParanoidiQ8N5S3
OMAiIYYAKFI
OrthoDBi1586889at2759
PhylomeDBiQ8N5S3
TreeFamiTF337686

Miscellaneous databases

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

More...
GenomeRNAii
129852

Protein Ontology

More...
PROi
PR:Q8N5S3

Gene expression databases

BgeeiENSG00000177994 Expressed in 83 organ(s), highest expression level in right testis
ExpressionAtlasiQ8N5S3 baseline and differential
GenevisibleiQ8N5S3 HS

Family and domain databases

InterProiView protein in InterPro
IPR031365 GDWWSH
PANTHERiPTHR35087 PTHR35087, 1 hit
PfamiView protein in Pfam
PF15667 GDWWSH, 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 nameiCB073_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: Q8N5S3
Secondary accession number(s): A0AV79, A0AV81, Q8N7V4
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 29, 2008
Last sequence update: January 11, 2011
Last modified: May 8, 2019
This is version 86 of the entry and version 3 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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.

Do not show this banner again