KEGG   VARIANT: 9049v1
Entry
9049v1                      Variant                                
Name
AIP mutation
Gene
AIP  aryl hydrocarbon receptor interacting protein [KO:K17767]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutation K58N
ClinVar: 41166
dbSNP: rs267606539
Variation
mutation F269=
ClinVar: 41209
dbSNP: rs139407567
Variation
mutation R304Q
ClinVar: 4893
dbSNP: rs104894190
Variation
mutation Q14Ter
ClinVar: 4886
dbSNP: rs104894194
Variation
mutation Y268Ter
ClinVar: 4892
dbSNP: rs121908356
Network
nt06360  Cushing syndrome
  Element
N00315  Mutation-inactivated AIP to AhR-mediated transcription
Reference
  Authors
Ozfirat Z, Korbonits M
  Title
AIP gene and familial isolated pituitary adenomas.
  Journal
Mol Cell Endocrinol 326:71-9 (2010)
DOI:10.1016/j.mce.2010.05.001
Reference
  Authors
Beckers A, Aaltonen LA, Daly AF, Karhu A
  Title
Familial isolated pituitary adenomas (FIPA) and the pituitary adenoma predisposition due to mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene.
  Journal
Endocr Rev 34:239-77 (2013)
DOI:10.1210/er.2012-1013
LinkDB

DBGET integrated database retrieval system