KEGG   VARIANT: 5395v1
Entry
5395v1                      Variant                                
Name
PMS2 mutation
Type
Loss of function
Gene
PMS2  PMS1 homolog 2, mismatch repair system component [KO:K10858]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 600259
Network
nt06503  Mismatch repair
Disease
H02565  Hereditary nonpolyposis colorectal cancer
Reference
PMID:20205264
  Authors
Vaughn CP, Robles J, Swensen JJ, Miller CE, Lyon E, Mao R, Bayrak-Toydemir P, Samowitz WS
  Title
Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes.
  Journal
Hum Mutat 31:588-93 (2010)
DOI:10.1002/humu.21230
LinkDB

DBGET integrated database retrieval system