VARIANT: 9049v1
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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
Disease
H01102
Pituitary adenomas
H01431
Cushing syndrome
Reference
PMID:
20457215
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
PMID:
23371967
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
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