The PMS1 gene homepage

General information
Gene symbol PMS1
Gene name PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
Chromosome 2
Chromosomal band q31-q33
Imprinted -
Genomic reference NG_008648.1
Transcript reference NM_000534.4
Associated with diseases WD
Citation reference(s) Pan M et al, 2011
Zhang T et al, 2010
Refseq URL Coding DNA reference sequence
Curators (0) -
Total number of public variants reported 22
Unique public DNA variants reported 22
Individuals with public variants 0
Hidden variants -
Notes This gene encodes a protein belonging to the DNA mismatch repair mutL/hexB family. This protein is thought to be involved in the repair of DNA mismatches, and it can form heterodimers with MLH1, a known DNA mismatch repair protein. Mutations in this gene cause hereditary nonpolyposis colorectal cancer type 3 (HNPCC3) either alone or in combination with mutations in other genes involved in the HNPCC phenotype, which is also known as Lynch syndrome. [provided by RefSeq, Jul 2008]
Also known as: PMSL1; hPMS1; HNPCC3
Date created May 04, 2013

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
Homepage URL http://www.genomed.org/lovd3/genes/PMS1
External URL Colon cancer gene variant databases
HGNC 9121
Entrez Gene 5378
PubMed articles PMS1
OMIM - Gene 600258
OMIM - Diseases WD (wilson disease)
HGMD PMS1
GeneCards PMS1
GeneTests PMS1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000107 2 PMS1 postmeiotic segregation increased 1 (S. cerevisiae) NM_000534.4 - 22


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