KEGG   VARIANT: 4221v1
Entry
4221v1                      Variant                                
Name
MEN1 mutation
Gene
MEN1  menin 1 [KO:K14970]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutation L22R
ClinVar: 16677
dbSNP: rs104894256
Variation
mutation E363del
ClinVar: 16685
dbSNP: rs869025185
Variation
mutation W436R
ClinVar: 16686
dbSNP: rs104894259
Variation
mutation R527Ter
ClinVar: 16688
dbSNP: rs104894261
Network
nt06360  Cushing syndrome
Disease
H00033  Adrenal carcinoma
H00034  Carcinoid
H00246  Primary hyperparathyroidism
H00247  Multiple endocrine neoplasia syndrome
H01102  Pituitary adenomas
H01431  Cushing syndrome
H01522  Zollinger-Ellison syndrome
Reference
PMID:9103196
  Authors
Chandrasekharappa SC, Guru SC, Manickam P, Olufemi SE, Collins FS, Emmert-Buck MR, Debelenko LV, Zhuang Z, Lubensky IA, Liotta LA, Crabtree JS, Wang Y, Roe BA, Weisemann J, Boguski MS, Agarwal SK, Kester MB, Kim YS, Heppner C, Dong Q, Spiegel AM, Burns AL, Marx SJ
  Title
Positional cloning of the gene for multiple endocrine neoplasia-type 1.
  Journal
Science 276:404-7 (1997)
DOI:10.1126/science.276.5311.404
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