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Entry version 84 (08 May 2019)
Sequence version 2 (03 Nov 2009)
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Protein

BICD family-like cargo adapter 2

Gene

BICDL2

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>
-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

<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

  • Rab GTPase binding Source: GO_Central

GO - Biological processi

<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:
BICD family-like cargo adapter 2
Alternative name(s):
Bicaudal D-related protein 2
Short name:
BICD-related protein 2
Short name:
BICDR-2
Coiled-coil domain-containing protein 64B
<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:BICDL2
Synonyms:BICDR2, CCDC64B
<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 16

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:33584 BICDL2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
617003 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_A1A5D9

<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

<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
146439

Open Targets

More...
OpenTargetsi
ENSG00000162069

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA162381686

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
BICDL2

<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_00003028611 – 508BICD family-like cargo adapter 2Add BLAST508

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
A1A5D9

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
A1A5D9

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

More...
PaxDbi
A1A5D9

PRoteomics IDEntifications database

More...
PRIDEi
A1A5D9

ProteomicsDB human proteome resource

More...
ProteomicsDBi
117
118 [A1A5D9-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
A1A5D9

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

More...
PhosphoSitePlusi
A1A5D9

<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
ENSG00000162069 Expressed in 126 organ(s), highest expression level in lower esophagus mucosa

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
A1A5D9 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
A1A5D9 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA043251

<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

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with RAB13.By similarity

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
KLC3Q6P5973EBI-10171799,EBI-1643885

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
126987, 2 interactors

Protein interaction database and analysis system

More...
IntActi
A1A5D9, 6 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000459043

<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
A1A5D9

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
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

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili64 – 300Sequence analysisAdd BLAST237
Coiled coili353 – 458Sequence analysisAdd BLAST106

<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 BICDR family.Curated

<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 - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IFV0 Eukaryota
ENOG410YDSJ LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000160797

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000015285

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
A1A5D9

KEGG Orthology (KO)

More...
KOi
K16756

Identification of Orthologs from Complete Genome Data

More...
OMAi
EMLSAQH

Database of Orthologous Groups

More...
OrthoDBi
595515at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
A1A5D9

TreeFam database of animal gene trees

More...
TreeFami
TF326671

<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>.<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 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: A1A5D9-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' 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
MSSPDGPSFP SGPLSGGASP SGDEGFFPFV LERRDSFLGG GPGPEEPEDL
60 70 80 90 100
ALQLQQKEKD LLLAAELGKM LLERNEELRR QLETLSAQHL EREERLQQEN
110 120 130 140 150
HELRRGLAAR GAEWEARAVE LEGDVEALRA QLGEQRSEQQ DSGRERARAL
160 170 180 190 200
SELSEQNLRL SQQLAQASQT EQELQRELDA LRGQCQAQAL AGAELRTRLE
210 220 230 240 250
SLQGENQMLQ SRRQDLEAQI RGLREEVEKG EGRLQTTHEE LLLLRRERRE
260 270 280 290 300
HSLELERARS EAGEALSALR RLQRRVSELE EESRLQDADV SAASLQSELA
310 320 330 340 350
HSLDDGDQGQ GADAPGDTPT TRSPKTRKAS SPQPSPPEEI LEPPKKRTSL
360 370 380 390 400
SPAEILEEKE VEVAKLQDEI SLQQAELQSL REELQRQKEL RAQEDPGEAL
410 420 430 440 450
HSALSDRDEA VNKALELSLQ LNRVSLERDS LSRELLRAIR QKVALTQELE
460 470 480 490 500
AWQDDMQVVI GQQLRSQRQK ELSASASSST PRRAAPRFSL RLGPGPAGGF

LSNLFRRT
Length:508
Mass (Da):56,834
Last modified:November 3, 2009 - 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:iA3E6222CF0B2473E
GO
Isoform 2 (identifier: A1A5D9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-207: Missing.

Note: No experimental confirmation available.
Show »
Length:301
Mass (Da):33,860
Checksum:i0EB157962DD3BEA7
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 is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A2R8Y2X6A0A2R8Y2X6_HUMAN
BICD family-like cargo adapter 2
BICDL2
541Annotation 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_06054355Q → E1 PublicationCorresponds to variant dbSNP:rs7204908Ensembl.1
Natural variantiVAR_034978273Q → R2 PublicationsCorresponds to variant dbSNP:rs2244494Ensembl.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_0279761 – 207Missing in isoform 2. 1 PublicationAdd BLAST207

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
AL833749 mRNA Translation: CAH56245.1
AC108134 Genomic DNA No translation available.
BC128602 mRNA Translation: AAI28603.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS45393.1 [A1A5D9-1]

NCBI Reference Sequences

More...
RefSeqi
NP_001096645.1, NM_001103175.1 [A1A5D9-1]
XP_005255192.1, XM_005255135.4 [A1A5D9-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000389347; ENSP00000373998; ENSG00000162069 [A1A5D9-1]
ENST00000572449; ENSP00000459043; ENSG00000162069 [A1A5D9-1]
ENST00000573514; ENSP00000461724; ENSG00000162069 [A1A5D9-2]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
146439

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:146439

UCSC genome browser

More...
UCSCi
uc002cte.5 human [A1A5D9-1]

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
AL833749 mRNA Translation: CAH56245.1
AC108134 Genomic DNA No translation available.
BC128602 mRNA Translation: AAI28603.1
CCDSiCCDS45393.1 [A1A5D9-1]
RefSeqiNP_001096645.1, NM_001103175.1 [A1A5D9-1]
XP_005255192.1, XM_005255135.4 [A1A5D9-1]

3D structure databases

SMRiA1A5D9
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi126987, 2 interactors
IntActiA1A5D9, 6 interactors
STRINGi9606.ENSP00000459043

PTM databases

iPTMnetiA1A5D9
PhosphoSitePlusiA1A5D9

Polymorphism and mutation databases

BioMutaiBICDL2

Proteomic databases

EPDiA1A5D9
jPOSTiA1A5D9
PaxDbiA1A5D9
PRIDEiA1A5D9
ProteomicsDBi117
118 [A1A5D9-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000389347; ENSP00000373998; ENSG00000162069 [A1A5D9-1]
ENST00000572449; ENSP00000459043; ENSG00000162069 [A1A5D9-1]
ENST00000573514; ENSP00000461724; ENSG00000162069 [A1A5D9-2]
GeneIDi146439
KEGGihsa:146439
UCSCiuc002cte.5 human [A1A5D9-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
146439
DisGeNETi146439

GeneCards: human genes, protein and diseases

More...
GeneCardsi
BICDL2

H-Invitational Database, human transcriptome db

More...
H-InvDBi
HIX0012754
HIX0027051
HGNCiHGNC:33584 BICDL2
HPAiHPA043251
MIMi617003 gene
neXtProtiNX_A1A5D9
OpenTargetsiENSG00000162069
PharmGKBiPA162381686

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IFV0 Eukaryota
ENOG410YDSJ LUCA
GeneTreeiENSGT00940000160797
HOGENOMiHOG000015285
InParanoidiA1A5D9
KOiK16756
OMAiEMLSAQH
OrthoDBi595515at2759
PhylomeDBiA1A5D9
TreeFamiTF326671

Miscellaneous databases

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

More...
GenomeRNAii
146439

Protein Ontology

More...
PROi
PR:A1A5D9

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000162069 Expressed in 126 organ(s), highest expression level in lower esophagus mucosa
ExpressionAtlasiA1A5D9 baseline and differential
GenevisibleiA1A5D9 HS

Family and domain databases

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
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 nameiBICL2_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: A1A5D9
Secondary accession number(s): Q658L9
<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: September 11, 2007
Last sequence update: November 3, 2009
Last modified: May 8, 2019
This is version 84 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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