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Variation
All
Change Type
Substitution
Deletions
Insertions
Duplications
Deletion/Insertion
LSDB
LOVD DMD
LOVD DMD
LOVD DMD
UMD DMD
Unknown DMD
Locus
Gene Cards
GeneCards DMD
Gene Names
GeneNames HGNC:2928
NCBI Entrez Gene
Entrez 1756
Publication
QuExT
QuExT
PubMed
PubMed
Disease
NCBI OMIM
OMIM 300376
OMIM 300377
OMIM 302045
OMIM 310200
Study
HGVbaseGEN2PHEN
HGVbaseG2P HGVST1
HGVbaseG2P HGVST185
HGVbaseG2P HGVST2
HGVbaseG2P HGVST27
HGVbaseG2P HGVST3
HGVbaseG2P HGVST306
HGVbaseG2P HGVST307
HGVbaseG2P HGVST308
HGVbaseG2P HGVST309
HGVbaseG2P HGVST310
HGVbaseG2P HGVST311
HGVbaseG2P HGVST312
HGVbaseG2P HGVST313
HGVbaseG2P HGVST314
HGVbaseG2P HGVST315
HGVbaseG2P HGVST320
HGVbaseG2P HGVST51
HGVbaseG2P HGVST65
HGVbaseG2P HGVST83
Pharmacogenomics
Pharmacogenomics KB
PharmGKB PA27378
Genome
NCBI MapViewer
Map View DMD
Ensembl
Ensembl ENSG00000198947
Pathway
KEGG
KEGG hsa:1756
Reactome
Protein
UniProt/SwissProt
SwissProt P11532
UniProt/TrEMBL
TrEMBL A1L0U9
TrEMBL A7E212
TrEMBL B1AK23
TrEMBL Q14172
TrEMBL Q14174
TrEMBL Q15945
TrEMBL Q16484
TrEMBL Q4G0X0
TrEMBL Q548X2
TrEMBL Q6NSJ9
TrEMBL Q6PK12
TrEMBL Q7KZ40
TrEMBL Q8N754
TrEMBL Q8TCV2
TrEMBL Q8WTQ2
TrEMBL Q8WTT4
TrEMBL Q8WYB7
TrEMBL Q8WYB8
TrEMBL Q8WYB9
TrEMBL Q8WYC0
TrEMBL Q8WYC1
TrEMBL Q8WYC2
TrEMBL Q8WYC3
TrEMBL Q8WYC4
TrEMBL Q8WYC5
TrEMBL Q8WYC6
TrEMBL Q8WYC7
TrEMBL Q8WYC8
TrEMBL Q8WYC9
TrEMBL Q8WYD0
TrEMBL Q8WYD1
TrEMBL Q8WYD2
TrEMBL Q8WYD3
TrEMBL Q8WYD4
TrEMBL Q8WYD5
TrEMBL Q8WYD6
TrEMBL Q8WYD7
TrEMBL Q8WYD8
TrEMBL Q8WYD9
TrEMBL Q8WYE0
TrEMBL Q8WYE1
TrEMBL Q8WYE2
TrEMBL Q8WYE3
TrEMBL Q8WYE4
TrEMBL Q8WYE5
TrEMBL Q8WYE6
TrEMBL Q8WYE7
TrEMBL Q8WYE8
TrEMBL Q8WYE9
TrEMBL Q8WYF0
Structure
PDB 1DXX
PDB 1EG3
PDB 1EG4
Sequence
Expasy AC004468
Expasy AC006061
Expasy AC078958
Expasy AC079143
Expasy AC079175
Expasy AC079177
Expasy AC079864
Expasy AC090632
Expasy AC093167
Expasy AC093193
Expasy AC096506
Expasy AF047502
Expasy AF047505
Expasy AF213402
Expasy AF213403
Expasy AF213404
Expasy AF213405
Expasy AF213406
Expasy AF213407
Expasy AF213408
Expasy AF213409
Expasy AF213410
Expasy AF213411
Expasy AF213412
Expasy AF213413
Expasy AF213414
Expasy AF213415
Expasy AF213416
Expasy AF213417
Expasy AF213418
Expasy AF213419
Expasy AF213420
Expasy AF213421
Expasy AF213422
Expasy AF213423
Expasy AF213424
Expasy AF213425
Expasy AF213426
Expasy AF213427
Expasy AF213428
Expasy AF213429
Expasy AF213430
Expasy AF213431
Expasy AF213433
Expasy AF213434
Expasy AF213435
Expasy AF213436
Expasy AF213437
Expasy AF213438
Expasy AF213439
Domain
InterPro IPR000433
InterPro IPR001202
InterPro IPR001589
InterPro IPR001715
InterPro IPR002017
InterPro IPR011992
InterPro IPR015153
InterPro IPR015154
InterPro IPR015621
InterPro IPR016146
InterPro IPR016344
Ontology
Molecular Function
AmiGO MF GO:0003779
AmiGO MF GO:0005200
AmiGO MF GO:0005509
AmiGO MF GO:0005515
AmiGO MF GO:0008270
AmiGO MF GO:0008307
AmiGO MF GO:0050998
Biological Process
AmiGO BP GO:0007016
AmiGO BP GO:0007517
AmiGO BP GO:0043043
Cellular Component
AmiGO CC GO:0005856
AmiGO CC GO:0009986
AmiGO CC GO:0016010
AmiGO CC GO:0042383
AmiGO CC GO:0043034
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