VARIATION DATABASES




Immunodeficiency Databases (IDbases)
Database Disease Host
ADAbase Adenosine deaminase deficiency Protein Structure and Bioinformatics Group, Lund, Sweden
BLMbase Bloom syndrome Protein Structure and Bioinformatics Group, Lund, Sweden
BTKbase X-linked agammaglobulinemia (XLA) Protein Structure and Bioinformatics Group, Lund, Sweden
CYBAbase Autosomal recessive p22 phox deficiency Protein Structure and Bioinformatics Group, Lund, Sweden
CYBBbase X-linked chronic granulomatous disease (XCGD) Protein Structure and Bioinformatics Group, Lund, Sweden
CD3Ebase CD3epsilon deficiency Protein Structure and Bioinformatics Group, Lund, Sweden
CD3Gbase CD3gamma deficiency Protein Structure and Bioinformatics Group, Lund, Sweden
CD40Lbase X-linked Hyper-IgM syndrome (XHIM) Protein Structure and Bioinformatics Group, Lund, Sweden
IL2RGbase X-linked severe combined immunodeficiency (XSCID) The National Human Genome Research Protein Structure and Bioinformatics Group, Lund University.
, Bethesda, USA
JAK3base Jak3 deficiency Protein Structure and Bioinformatics Group, Lund, Sweden
NCF1base Autosomal recessive p47 phox deficiency Protein Structure and Bioinformatics Group, Lund, Sweden
NCF2base Autosomal recessive p67 phox deficiency Protein Structure and Bioinformatics Group, Lund, Sweden
RAG1base RAG1 deficiency Protein Structure and Bioinformatics Group, Lund, Sweden
RAG2base RAG2 deficiency Protein Structure and Bioinformatics Group, Lund, Sweden
SH2D1Abase X-linked lymphoproliferative syndrome (XLP) Protein Structure and Bioinformatics Group, Lund, Sweden
ZAP70base ZAP70 deficiency Protein Structure and Bioinformatics Group, Lund, Sweden
FAA and FAC Fanconi Anemia The Rockefeller University, New York, USA
ATM Ataxia-Telangiectasia Virginia Mason Research Center, Seattle, USA
ATbase Ataxia-Telangiectasia Karolinska Insitute, Stockholm, Sweden


Other Variation Databases
DatabaseSRS DatabaseSRS DatabaseSRS
 The Androgen Receptor Mutations Database    ANDROGENR  HAEMB (FTP) HAEMB  Phenylalanine Hydroxylase PAH
 APC APC  The Haemophilia A  (HAMSTeRS) HAEMA  PAX6 PAX6
 Autosomal recessive forms of chronic granulomatous disease (CGD) PDF ARCGD  A Syllabus of Human Hemoglobin Variants HBVARS  X-linked phosphoglycerate kinase PDF  PGK
 ATM variation database ATM  Spectrin subunit genes, SPTA and SPTB PDF HEHP  Pyruvate kinase (PK) deficiency PDF  PK
 Database of tetrahydrobiopterin deficiency variations BIOMDB  Hereditary spherocytosis PDF HEREDSPHERO  p16 variation database P16
 Cystic Fibrosis Mutation Data Base CFTR  Hexosaminidase A (HEXA) HEXA  P53 Mutation database  P53
 Muscular Dystrophy DMD  The Human Gene Mutation Database (HGMD)  The p53 variation database of Thierry Soussi  P53B
 Emery-Dreifuss Muscular Dystrophy EMD  M6P/IGF2R Mutation Database IGF2R  RB1 variation database  RB1
 Fanconi Anemia  FANCONI  KinMutBase  RDS/RHODOPSIN RDS RHODOPSIN
 Factor VII Mutation Database FVII  L1CAM L1CAM  Universal Mutation Database
 A register of variations in Human acid alpha-glucosidase GAA  List of Variation Resources MUTRES  Glycolytic enzyme triosephosphate PDF TPI
 Gaucher Disease PDF GD  Low Density Lipoprotein Receptor LDLR  von Willebrand Factor (VWF) VWF
 Glucose-6-Phosphate Dehydrogenase G6PD  Neuronal Ceroid Lipofuscinoses NCL
 glucose phosphate isomerase PDF GPI  Human Ornithine Transcarbamylase (OTCase) OTC


Variation Database Initiative


This site is updated by Gerard Schaafsma.
Last modified