The PMS2 gene homepage

General information
Gene symbol PMS2
Gene name PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
Chromosome 7
Chromosomal band p22.1
Imprinted Unknown
Genomic reference NG_008466.1
Transcript reference NM_000535.5, NR_003085.2
Associated with diseases HNPCC-1, HNPCC-4, MMRCS
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 199
Unique public DNA variants reported 23
Individuals with public variants 35
Hidden variants 25
Date created November 30, -0001
Date last updated September 28, 2016
Version PMS2:160928

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
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:9122
Entrez Gene 5395
PubMed articles PMS2
OMIM - Gene 600259
OMIM - Diseases HNPCC-1 (Lynch)
HNPCC-4 (cancer, colorectal, nonpolyposis, hereditary, type 4 (HNPCC-4))
MMRCS (cancer syndrome, mismatch repair (MMRCS))


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00013500 7 transcript variant 1 NM_000535.5 NP_000526.1 199
00031626 7 Manually created transcript NR_003085.2 - -