UniProtKB - P18887 (XRCC1_HUMAN)
DNA repair protein XRCC1
XRCC1
Functioni
Involved in DNA single-strand break repair by mediating the assembly of DNA break repair protein complexes. Probably during DNA repair, negatively regulates ADP-ribose levels by modulating ADP-ribosyltransferase PARP1 activity.
1 PublicationGO - Molecular functioni
- 3' overhang single-stranded DNA endodeoxyribonuclease activity Source: Ensembl
- enzyme binding Source: BHF-UCL
- oxidized DNA binding Source: UniProtKB
GO - Biological processi
- base-excision repair Source: GO_Central
- cerebellum morphogenesis Source: Ensembl
- double-strand break repair via nonhomologous end joining Source: Ensembl
- hippocampus development Source: Ensembl
- negative regulation of protection from non-homologous end joining at telomere Source: Ensembl
- negative regulation of protein ADP-ribosylation Source: UniProtKB
- positive regulation of DNA ligase activity Source: UniProtKB
- positive regulation of single strand break repair Source: UniProtKB
- replication-born double-strand break repair via sister chromatid exchange Source: UniProtKB
- response to hydroperoxide Source: UniProtKB
- response to hypoxia Source: Ensembl
- response to organic substance Source: Ensembl
- response to xenobiotic stimulus Source: Ensembl
- single strand break repair Source: InterPro
- telomeric DNA-containing double minutes formation Source: Ensembl
- voluntary musculoskeletal movement Source: UniProtKB
Keywordsi
Biological process | DNA damage, DNA repair |
Enzyme and pathway databases
PathwayCommonsi | P18887 |
Reactomei | R-HSA-110381, Resolution of AP sites via the single-nucleotide replacement pathway R-HSA-5649702, APEX1-Independent Resolution of AP Sites via the Single Nucleotide Replacement Pathway R-HSA-5685939, HDR through MMEJ (alt-NHEJ) R-HSA-5696397, Gap-filling DNA repair synthesis and ligation in GG-NER R-HSA-6782210, Gap-filling DNA repair synthesis and ligation in TC-NER |
SignaLinki | P18887 |
SIGNORi | P18887 |
Names & Taxonomyi
Protein namesi | Recommended name: DNA repair protein XRCC1CuratedAlternative name(s): X-ray repair cross-complementing protein 1 |
Gene namesi | Name:XRCC1Imported |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:12828, XRCC1 |
MIMi | 194360, gene |
neXtProti | NX_P18887 |
VEuPathDBi | HostDB:ENSG00000073050 |
Subcellular locationi
Nucleus
- Nucleus 2 Publications
Note: Moves from the nucleoli to the global nuclear chromatin upon DNA damage.1 Publication
Nucleus
- ERCC4-ERCC1 complex Source: Ensembl
- nucleolus Source: UniProtKB
- nucleoplasm Source: HPA
- nucleus Source: GO_Central
Other locations
- chromatin Source: UniProtKB
- chromosome, telomeric region Source: Ensembl
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
Spinocerebellar ataxia, autosomal recessive, 26 (SCAR26)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_079140 | 431 | K → N in SCAR26; may result in aberrant splicing. 1 PublicationCorresponds to variant dbSNP:rs761564262EnsemblClinVar. | 1 | |
Natural variantiVAR_079141 | 465 – 633 | Missing in SCAR26. 1 PublicationAdd BLAST | 169 |
Keywords - Diseasei
NeurodegenerationOrganism-specific databases
DisGeNETi | 7515 |
MalaCardsi | XRCC1 |
MIMi | 617633, phenotype |
PharmGKBi | PA369 |
Miscellaneous databases
Pharosi | P18887, Tbio |
Genetic variation databases
BioMutai | XRCC1 |
DMDMi | 317373290 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000066044 | 1 – 633 | DNA repair protein XRCC1Add BLAST | 633 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 140 | PhosphoserineCombined sources | 1 | |
Cross-linki | 176 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternateCombined sources | ||
Cross-linki | 176 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources | ||
Modified residuei | 198 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 199 | PhosphoserineCombined sources | 1 | |
Modified residuei | 202 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 204 | PhosphoserineCombined sources | 1 | |
Modified residuei | 226 | PhosphoserineCombined sources | 1 | |
Modified residuei | 241 | PhosphoserineCombined sources | 1 | |
Modified residuei | 257 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 259 | PhosphoserineCombined sources | 1 | |
Modified residuei | 266 | PhosphoserineCombined sources | 1 | |
Modified residuei | 281 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 371 | Phosphoserine; by PRKDC1 Publication | 1 | |
Modified residuei | 408 | PhosphoserineCombined sources | 1 | |
Modified residuei | 409 | PhosphoserineCombined sources | 1 | |
Modified residuei | 410 | PhosphoserineCombined sources | 1 | |
Modified residuei | 421 | PhosphoserineCombined sources | 1 | |
Modified residuei | 446 | PhosphoserineCombined sources | 1 | |
Modified residuei | 447 | PhosphoserineCombined sources | 1 | |
Modified residuei | 453 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 457 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 461 | PhosphoserineCombined sources | 1 | |
Modified residuei | 485 | PhosphoserineCombined sources1 Publication | 1 | |
Modified residuei | 488 | PhosphothreonineCombined sources1 Publication | 1 | |
Modified residuei | 518 | Phosphoserine1 Publication | 1 | |
Modified residuei | 519 | Phosphothreonine1 Publication | 1 | |
Modified residuei | 523 | Phosphothreonine1 Publication | 1 |
Post-translational modificationi
Keywords - PTMi
Isopeptide bond, Phosphoprotein, Ubl conjugationProteomic databases
EPDi | P18887 |
jPOSTi | P18887 |
MassIVEi | P18887 |
MaxQBi | P18887 |
PaxDbi | P18887 |
PeptideAtlasi | P18887 |
PRIDEi | P18887 |
ProteomicsDBi | 53619 |
PTM databases
GlyGeni | P18887, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | P18887 |
PhosphoSitePlusi | P18887 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000073050, Expressed in ventricular zone and 233 other tissues |
ExpressionAtlasi | P18887, baseline and differential |
Genevisiblei | P18887, HS |
Organism-specific databases
HPAi | ENSG00000073050, Low tissue specificity |
Interactioni
Subunit structurei
Homodimer.
Interacts with polynucleotide kinase (PNK), DNA polymerase-beta (POLB) and DNA ligase III (LIG3).
Interacts with APTX and APLF.
Interacts with APEX1; the interaction is induced by SIRT1 and increases with the acetylated form of APEX1.
9 PublicationsBinary interactionsi
P18887
GO - Molecular functioni
- enzyme binding Source: BHF-UCL
Protein-protein interaction databases
BioGRIDi | 113349, 120 interactors |
CORUMi | P18887 |
DIPi | DIP-39067N |
IntActi | P18887, 65 interactors |
MINTi | P18887 |
STRINGi | 9606.ENSP00000262887 |
Miscellaneous databases
RNActi | P18887, protein |
Structurei
Secondary structure
3D structure databases
BMRBi | P18887 |
SASBDBi | P18887 |
SMRi | P18887 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | P18887 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 315 – 403 | BRCT 1PROSITE-ProRule annotationAdd BLAST | 89 | |
Domaini | 538 – 629 | BRCT 2PROSITE-ProRule annotationAdd BLAST | 92 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 221 – 313 | DisorderedSequence analysisAdd BLAST | 93 | |
Regioni | 400 – 462 | DisorderedSequence analysisAdd BLAST | 63 | |
Regioni | 471 – 490 | DisorderedSequence analysisAdd BLAST | 20 | |
Regioni | 498 – 536 | DisorderedSequence analysisAdd BLAST | 39 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 221 – 239 | Polar residuesSequence analysisAdd BLAST | 19 | |
Compositional biasi | 240 – 256 | Basic and acidic residuesSequence analysisAdd BLAST | 17 | |
Compositional biasi | 263 – 283 | Pro residuesSequence analysisAdd BLAST | 21 | |
Compositional biasi | 428 – 444 | Polar residuesSequence analysisAdd BLAST | 17 |
Keywords - Domaini
RepeatPhylogenomic databases
eggNOGi | KOG3226, Eukaryota |
HOGENOMi | CLU_030026_0_0_1 |
InParanoidi | P18887 |
OrthoDBi | 539462at2759 |
PhylomeDBi | P18887 |
TreeFami | TF101201 |
Family and domain databases
CDDi | cd17725, BRCT_XRCC1_rpt1, 1 hit |
Gene3Di | 3.40.50.10190, 2 hits |
InterProi | View protein in InterPro IPR001357, BRCT_dom IPR036420, BRCT_dom_sf IPR045080, BRCT_XRCC1_rpt1 IPR008979, Galactose-bd-like_sf IPR002706, Xrcc1_N |
Pfami | View protein in Pfam PF00533, BRCT, 1 hit PF16589, BRCT_2, 1 hit PF01834, XRCC1_N, 1 hit |
SMARTi | View protein in SMART SM00292, BRCT, 2 hits |
SUPFAMi | SSF49785, SSF49785, 1 hit SSF52113, SSF52113, 2 hits |
PROSITEi | View protein in PROSITE PS50172, BRCT, 2 hits |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 5 potential isoforms that are computationally mapped.Show allAlign All
10 20 30 40 50
MPEIRLRHVV SCSSQDSTHC AENLLKADTY RKWRAAKAGE KTISVVLQLE
60 70 80 90 100
KEEQIHSVDI GNDGSAFVEV LVGSSAGGAG EQDYEVLLVT SSFMSPSESR
110 120 130 140 150
SGSNPNRVRM FGPDKLVRAA AEKRWDRVKI VCSQPYSKDS PFGLSFVRFH
160 170 180 190 200
SPPDKDEAEA PSQKVTVTKL GQFRVKEEDE SANSLRPGAL FFSRINKTSP
210 220 230 240 250
VTASDPAGPS YAAATLQASS AASSASPVSR AIGSTSKPQE SPKGKRKLDL
260 270 280 290 300
NQEEKKTPSK PPAQLSPSVP KRPKLPAPTR TPATAPVPAR AQGAVTGKPR
310 320 330 340 350
GEGTEPRRPR AGPEELGKIL QGVVVVLSGF QNPFRSELRD KALELGAKYR
360 370 380 390 400
PDWTRDSTHL ICAFANTPKY SQVLGLGGRI VRKEWVLDCH RMRRRLPSQR
410 420 430 440 450
YLMAGPGSSS EEDEASHSGG SGDEAPKLPQ KQPQTKTKPT QAAGPSSPQK
460 470 480 490 500
PPTPEETKAA SPVLQEDIDI EGVQSEGQDN GAEDSGDTED ELRRVAEQKE
510 520 530 540 550
HRLPPGQEEN GEDPYAGSTD ENTDSEEHQE PPDLPVPELP DFFQGKHFFL
560 570 580 590 600
YGEFPGDERR KLIRYVTAFN GELEDYMSDR VQFVITAQEW DPSFEEALMD
610 620 630
NPSLAFVRPR WIYSCNEKQK LLPHQLYGVV PQA
Computationally mapped potential isoform sequencesi
There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketF5H8D7 | F5H8D7_HUMAN | DNA repair protein XRCC1 | XRCC1 | 602 | Annotation score: | ||
M0QYS5 | M0QYS5_HUMAN | DNA repair protein XRCC1 | XRCC1 | 292 | Annotation score: | ||
M0R1U8 | M0R1U8_HUMAN | DNA repair protein XRCC1 | XRCC1 | 210 | Annotation score: | ||
M0R0D2 | M0R0D2_HUMAN | DNA repair protein XRCC1 | XRCC1 | 172 | Annotation score: | ||
M0QZ96 | M0QZ96_HUMAN | DNA repair protein XRCC1 | XRCC1 | 165 | Annotation score: |
Polymorphismi
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_014773 | 7 | R → L. Corresponds to variant dbSNP:rs2307186Ensembl. | 1 | |
Natural variantiVAR_014774 | 10 | V → M. Corresponds to variant dbSNP:rs2307171Ensembl. | 1 | |
Natural variantiVAR_016168 | 72 | V → A1 PublicationCorresponds to variant dbSNP:rs25496EnsemblClinVar. | 1 | |
Natural variantiVAR_029228 | 107 | R → H. Corresponds to variant dbSNP:rs2228487EnsemblClinVar. | 1 | |
Natural variantiVAR_014775 | 157 | E → K. Corresponds to variant dbSNP:rs2307180Ensembl. | 1 | |
Natural variantiVAR_014776 | 161 | P → L1 PublicationCorresponds to variant dbSNP:rs2307191EnsemblClinVar. | 1 | |
Natural variantiVAR_013400 | 194 | R → W2 PublicationsCorresponds to variant dbSNP:rs1799782EnsemblClinVar. | 1 | |
Natural variantiVAR_013401 | 280 | R → H2 PublicationsCorresponds to variant dbSNP:rs25489Ensembl. | 1 | |
Natural variantiVAR_014777 | 298 | K → N. Corresponds to variant dbSNP:rs2307188Ensembl. | 1 | |
Natural variantiVAR_018775 | 304 | T → A1 PublicationCorresponds to variant dbSNP:rs25490EnsemblClinVar. | 1 | |
Natural variantiVAR_014778 | 309 | P → S1 PublicationCorresponds to variant dbSNP:rs25491Ensembl. | 1 | |
Natural variantiVAR_036277 | 350 | R → W in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs754041352Ensembl. | 1 | |
Natural variantiVAR_011487 | 399 | Q → R5 PublicationsCorresponds to variant dbSNP:rs25487EnsemblClinVar. | 1 | |
Natural variantiVAR_079140 | 431 | K → N in SCAR26; may result in aberrant splicing. 1 PublicationCorresponds to variant dbSNP:rs761564262EnsemblClinVar. | 1 | |
Natural variantiVAR_079141 | 465 – 633 | Missing in SCAR26. 1 PublicationAdd BLAST | 169 | |
Natural variantiVAR_014779 | 485 | S → Y. Corresponds to variant dbSNP:rs2307184Ensembl. | 1 | |
Natural variantiVAR_016169 | 514 | P → L. Corresponds to variant dbSNP:rs25474Ensembl. | 1 | |
Natural variantiVAR_014780 | 559 | R → Q. Corresponds to variant dbSNP:rs2307167Ensembl. | 1 | |
Natural variantiVAR_014781 | 560 | R → W. Corresponds to variant dbSNP:rs2307166Ensembl. | 1 | |
Natural variantiVAR_061727 | 576 | Y → N1 PublicationCorresponds to variant dbSNP:rs2682557Ensembl. | 1 | |
Natural variantiVAR_014782 | 576 | Y → S1 PublicationCorresponds to variant dbSNP:rs2307177Ensembl. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | M36089 mRNA Translation: AAA63270.1 AF512504 Genomic DNA Translation: AAM34791.1 CR456728 mRNA Translation: CAG33009.1 AC018758 Genomic DNA Translation: AAG09061.1 KC877750 Genomic DNA No translation available. L34079 Genomic DNA No translation available. BC023593 mRNA Translation: AAH23593.1 |
CCDSi | CCDS12624.1 |
PIRi | A36353 |
RefSeqi | NP_006288.2, NM_006297.2 |
Genome annotation databases
Ensembli | ENST00000262887; ENSP00000262887; ENSG00000073050 |
GeneIDi | 7515 |
KEGGi | hsa:7515 |
MANE-Selecti | ENST00000262887.10; ENSP00000262887.5; NM_006297.3; NP_006288.2 |
UCSCi | uc002owt.3, human |
Similar proteinsi
Cross-referencesi
Web resourcesi
NIEHS-SNPs |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | M36089 mRNA Translation: AAA63270.1 AF512504 Genomic DNA Translation: AAM34791.1 CR456728 mRNA Translation: CAG33009.1 AC018758 Genomic DNA Translation: AAG09061.1 KC877750 Genomic DNA No translation available. L34079 Genomic DNA No translation available. BC023593 mRNA Translation: AAH23593.1 |
CCDSi | CCDS12624.1 |
PIRi | A36353 |
RefSeqi | NP_006288.2, NM_006297.2 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
1CDZ | X-ray | 3.20 | A | 538-633 | [»] | |
1XNA | NMR | - | A | 1-183 | [»] | |
1XNT | NMR | - | A | 1-183 | [»] | |
2D8M | NMR | - | A | 305-420 | [»] | |
2W3O | X-ray | 1.85 | C/D | 515-522 | [»] | |
3K75 | X-ray | 2.95 | B/C | 1-183 | [»] | |
3K77 | X-ray | 2.60 | A/B/C/D/E/F/G/H | 1-155 | [»] | |
3LQC | X-ray | 2.35 | A | 1-183 | [»] | |
5E6Q | X-ray | 2.31 | A | 241-276 | [»] | |
5W7X | X-ray | 2.00 | E/F/G/H | 514-522 | [»] | |
5W7Y | X-ray | 2.10 | C/D | 514-521 | [»] | |
BMRBi | P18887 | |||||
SASBDBi | P18887 | |||||
SMRi | P18887 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 113349, 120 interactors |
CORUMi | P18887 |
DIPi | DIP-39067N |
IntActi | P18887, 65 interactors |
MINTi | P18887 |
STRINGi | 9606.ENSP00000262887 |
PTM databases
GlyGeni | P18887, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | P18887 |
PhosphoSitePlusi | P18887 |
Genetic variation databases
BioMutai | XRCC1 |
DMDMi | 317373290 |
Proteomic databases
EPDi | P18887 |
jPOSTi | P18887 |
MassIVEi | P18887 |
MaxQBi | P18887 |
PaxDbi | P18887 |
PeptideAtlasi | P18887 |
PRIDEi | P18887 |
ProteomicsDBi | 53619 |
Protocols and materials databases
Antibodypediai | 1863, 559 antibodies from 44 providers |
DNASUi | 7515 |
Genome annotation databases
Ensembli | ENST00000262887; ENSP00000262887; ENSG00000073050 |
GeneIDi | 7515 |
KEGGi | hsa:7515 |
MANE-Selecti | ENST00000262887.10; ENSP00000262887.5; NM_006297.3; NP_006288.2 |
UCSCi | uc002owt.3, human |
Organism-specific databases
CTDi | 7515 |
DisGeNETi | 7515 |
GeneCardsi | XRCC1 |
HGNCi | HGNC:12828, XRCC1 |
HPAi | ENSG00000073050, Low tissue specificity |
MalaCardsi | XRCC1 |
MIMi | 194360, gene 617633, phenotype |
neXtProti | NX_P18887 |
PharmGKBi | PA369 |
VEuPathDBi | HostDB:ENSG00000073050 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3226, Eukaryota |
HOGENOMi | CLU_030026_0_0_1 |
InParanoidi | P18887 |
OrthoDBi | 539462at2759 |
PhylomeDBi | P18887 |
TreeFami | TF101201 |
Enzyme and pathway databases
PathwayCommonsi | P18887 |
Reactomei | R-HSA-110381, Resolution of AP sites via the single-nucleotide replacement pathway R-HSA-5649702, APEX1-Independent Resolution of AP Sites via the Single Nucleotide Replacement Pathway R-HSA-5685939, HDR through MMEJ (alt-NHEJ) R-HSA-5696397, Gap-filling DNA repair synthesis and ligation in GG-NER R-HSA-6782210, Gap-filling DNA repair synthesis and ligation in TC-NER |
SignaLinki | P18887 |
SIGNORi | P18887 |
Miscellaneous databases
BioGRID-ORCSi | 7515, 110 hits in 1053 CRISPR screens |
ChiTaRSi | XRCC1, human |
EvolutionaryTracei | P18887 |
GeneWikii | XRCC1 |
GenomeRNAii | 7515 |
Pharosi | P18887, Tbio |
PROi | PR:P18887 |
RNActi | P18887, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000073050, Expressed in ventricular zone and 233 other tissues |
ExpressionAtlasi | P18887, baseline and differential |
Genevisiblei | P18887, HS |
Family and domain databases
CDDi | cd17725, BRCT_XRCC1_rpt1, 1 hit |
Gene3Di | 3.40.50.10190, 2 hits |
InterProi | View protein in InterPro IPR001357, BRCT_dom IPR036420, BRCT_dom_sf IPR045080, BRCT_XRCC1_rpt1 IPR008979, Galactose-bd-like_sf IPR002706, Xrcc1_N |
Pfami | View protein in Pfam PF00533, BRCT, 1 hit PF16589, BRCT_2, 1 hit PF01834, XRCC1_N, 1 hit |
SMARTi | View protein in SMART SM00292, BRCT, 2 hits |
SUPFAMi | SSF49785, SSF49785, 1 hit SSF52113, SSF52113, 2 hits |
PROSITEi | View protein in PROSITE PS50172, BRCT, 2 hits |
MobiDBi | Search... |
Entry informationi
Entry namei | XRCC1_HUMAN | |
Accessioni | P18887Primary (citable) accession number: P18887 Secondary accession number(s): Q6IBS4, Q9HCB1 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 1, 1990 |
Last sequence update: | February 23, 2022 | |
Last modified: | February 23, 2022 | |
This is version 220 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 19
Human chromosome 19: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references