PMS2 gene homepage

General information
Gene symbol PMS2
Gene name PMS1 homolog 2, mismatch repair system component
Chromosome 7
Chromosomal band p22.1
Imprinted Unknown
Genomic reference LRG_161
Transcript reference NM_000535.5
Associated with diseases HNPCC4, MMRCS
Citation reference(s) -
Curators (1) Despoina Kalfakakou
Total number of public variants reported 416
Unique public DNA variants reported 105
Individuals with public variants 344
Hidden variants 0
Date created May 20, 2020
Date last updated September 17, 2020
Version PMS2:200917

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC 9122
Entrez Gene 5395
PubMed articles PMS2
OMIM - Gene 600259
OMIM - Diseases HNPCC4 (Colorectal cancer, hereditary nonpolyposis, type 4)
MMRCS (Mismatch repair cancer syndrome)


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000162 7 PMS2 postmeiotic segregation increased 2 (S. cerevisiae), transcript variant 1 NM_000535.5 NP_000526.1 416


Copyright & disclaimer
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