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Entry version 100 (16 Oct 2019)
Sequence version 1 (30 Aug 2005)
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Protein

Glutamate-rich protein 6

Gene

ERICH6

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:
Glutamate-rich protein 6
Alternative name(s):
Protein FAM194A
<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:ERICH6
Synonyms:C3orf44, FAM194A
<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 3

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:28602 ERICH6

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q7L0X2

<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
ENSG00000163645

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA165697300

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q7L0X2

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ERICH6

Domain mapping of disease mutations (DMDM)

More...
DMDMi
121944419

<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_00002919241 – 663Glutamate-rich protein 6Add BLAST663

Proteomic databases

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

More...
PaxDbi
Q7L0X2

PeptideAtlas

More...
PeptideAtlasi
Q7L0X2

PRoteomics IDEntifications database

More...
PRIDEi
Q7L0X2

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
68738 [Q7L0X2-1]
68739 [Q7L0X2-2]
68740 [Q7L0X2-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q7L0X2

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

More...
PhosphoSitePlusi
Q7L0X2

<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
ENSG00000163645 Expressed in 67 organ(s), highest expression level in testis

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q7L0X2 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q7L0X2 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA048373

<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
126294, 2 interactors

Protein interaction database and analysis system

More...
IntActi
Q7L0X2, 2 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000295910

<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
Q7L0X2

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

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi20 – 76Glu-richAdd BLAST57

<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 ERICH6 family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IITW Eukaryota
ENOG4111TGA LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000153655

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000111364

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q7L0X2

Identification of Orthologs from Complete Genome Data

More...
OMAi
KGHASCC

Database of Orthologous Groups

More...
OrthoDBi
866189at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q7L0X2

TreeFam database of animal gene trees

More...
TreeFami
TF350393

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR029281 FAM194_C

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF14977 FAM194, 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 (3+)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 3 <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 3 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q7L0X2-1) [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
MAHLRSPSGF GDPGKKDQKE SEEELEEEEE EEEVEEEEEE VEEEEEEVEE
60 70 80 90 100
EEEEVVEEEL VGEEQELEAP ETFSEEYLWK VTDIGDYDDD FPDVRPRLAS
110 120 130 140 150
IVSPSLTSTF VPSQSATSTE TPSASPPSST SSHKSFPKIF QTFRKDMSEM
160 170 180 190 200
SIDRNIHRNL SPGIPVSVQT EESWLQDLSD KVQSRKKASK EKAEPECLAS
210 220 230 240 250
KLREKWVINP EESKLNILYE LEFKEDFITL FEPSLRTLPS IGPPSILAYK
260 270 280 290 300
EESSNLGINF KDEEEETSPK CEFCGSDLRA FFSNVDVSSE PKGHASCCIA
310 320 330 340 350
FQNLIDYIYE EQIKTKPPKA ELIAIDPHAA HGSEVDRLKA KEKALQRKQE
360 370 380 390 400
QRMARHFAII SREQTHFSED DSKRLKTISY QLSVDIPEKQ IIDDIVFDFQ
410 420 430 440 450
LRNSNMSIIC CDSRIACGKV VRNELLEKHY KHGSKFLTSF PDGTTQIFYP
460 470 480 490 500
SGNLAIIRVP NKVNGFTCIV QEDMPTNPAI LAVLDSSGRS SCYHPNGNVW
510 520 530 540 550
VYINILGGQY SDQAGNRIRA WNWSNSITSS PFVSFKPVFL ALNRYIGVRI
560 570 580 590 600
LEQDKISITF LAMGQQARIS VGTKVKLPNP EEIPILRYVS GDDLLLLASL
610 620 630 640 650
IKIRRLFHKL EGCVNFPSSQ VWEKLKQPSY LSSLSLKLIA LCHSSGIKQD
660
IMKTIRNIIN EEI
Length:663
Mass (Da):75,255
Last modified:August 30, 2005 - 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:iFB31D4C940CE4072
GO
Isoform 2 (identifier: Q7L0X2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     22-63: Missing.

Show »
Length:621
Mass (Da):70,116
Checksum:i68784D53C0F567E4
GO
Isoform 3 (identifier: Q7L0X2-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-146: Missing.

Show »
Length:517
Mass (Da):58,633
Checksum:iE1CD2D62A618AD11
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 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9J7L7C9J7L7_HUMAN
Glutamate-rich protein 6
ERICH6
135Annotation 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>
C9JVV3C9JVV3_HUMAN
Glutamate-rich protein 6
ERICH6
164Annotation 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>

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_0328939G → V. Corresponds to variant dbSNP:rs16862795Ensembl.1
Natural variantiVAR_032894433G → R. Corresponds to variant dbSNP:rs11919896Ensembl.1
Natural variantiVAR_062240604R → H. Corresponds to variant dbSNP:rs34137455Ensembl.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_0263121 – 146Missing in isoform 3. 1 PublicationAdd BLAST146
Alternative sequenceiVSP_02631322 – 63Missing in isoform 2. 1 PublicationAdd BLAST42

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
BC029577 mRNA Translation: AAH29577.1
BC036239 mRNA Translation: AAH36239.2
AK093375 mRNA Translation: BAC04146.1
AL834214 mRNA Translation: CAD38896.2

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS3151.2 [Q7L0X2-1]
CCDS77840.1 [Q7L0X2-3]

NCBI Reference Sequences

More...
RefSeqi
NP_001295163.1, NM_001308234.1 [Q7L0X2-3]
NP_689607.2, NM_152394.4 [Q7L0X2-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000295910; ENSP00000295910; ENSG00000163645 [Q7L0X2-1]
ENST00000491361; ENSP00000419366; ENSG00000163645 [Q7L0X2-3]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
131831

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:131831

UCSC genome browser

More...
UCSCi
uc003eyg.4 human [Q7L0X2-1]

<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
BC029577 mRNA Translation: AAH29577.1
BC036239 mRNA Translation: AAH36239.2
AK093375 mRNA Translation: BAC04146.1
AL834214 mRNA Translation: CAD38896.2
CCDSiCCDS3151.2 [Q7L0X2-1]
CCDS77840.1 [Q7L0X2-3]
RefSeqiNP_001295163.1, NM_001308234.1 [Q7L0X2-3]
NP_689607.2, NM_152394.4 [Q7L0X2-1]

3D structure databases

SMRiQ7L0X2
ModBaseiSearch...

Protein-protein interaction databases

BioGridi126294, 2 interactors
IntActiQ7L0X2, 2 interactors
STRINGi9606.ENSP00000295910

PTM databases

iPTMnetiQ7L0X2
PhosphoSitePlusiQ7L0X2

Polymorphism and mutation databases

BioMutaiERICH6
DMDMi121944419

Proteomic databases

PaxDbiQ7L0X2
PeptideAtlasiQ7L0X2
PRIDEiQ7L0X2
ProteomicsDBi68738 [Q7L0X2-1]
68739 [Q7L0X2-2]
68740 [Q7L0X2-3]

Genome annotation databases

EnsembliENST00000295910; ENSP00000295910; ENSG00000163645 [Q7L0X2-1]
ENST00000491361; ENSP00000419366; ENSG00000163645 [Q7L0X2-3]
GeneIDi131831
KEGGihsa:131831
UCSCiuc003eyg.4 human [Q7L0X2-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
131831

GeneCards: human genes, protein and diseases

More...
GeneCardsi
ERICH6
HGNCiHGNC:28602 ERICH6
HPAiHPA048373
neXtProtiNX_Q7L0X2
OpenTargetsiENSG00000163645
PharmGKBiPA165697300

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IITW Eukaryota
ENOG4111TGA LUCA
GeneTreeiENSGT00940000153655
HOGENOMiHOG000111364
InParanoidiQ7L0X2
OMAiKGHASCC
OrthoDBi866189at2759
PhylomeDBiQ7L0X2
TreeFamiTF350393

Miscellaneous databases

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

More...
GenomeRNAii
131831
PharosiQ7L0X2

Protein Ontology

More...
PROi
PR:Q7L0X2

Gene expression databases

BgeeiENSG00000163645 Expressed in 67 organ(s), highest expression level in testis
ExpressionAtlasiQ7L0X2 baseline and differential
GenevisibleiQ7L0X2 HS

Family and domain databases

InterProiView protein in InterPro
IPR029281 FAM194_C
PfamiView protein in Pfam
PF14977 FAM194, 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 nameiERIP6_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: Q7L0X2
Secondary accession number(s): Q8N9Y8, Q8NCQ6, Q8NCZ6
<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: June 26, 2007
Last sequence update: August 30, 2005
Last modified: October 16, 2019
This is version 100 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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