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PMS1

Basic information

Official gene symbol
PMS1 homolog 1, mismatch repair system component
Conventional gene symbol
HNPCC3, MLH2, PMSL1, hPMS1
Classification
Tumor suppressor gene
Official gene ID
5378(Refseq)
5378 (KEGG)
Transcript ID
NM_001321047
Functional classification
Genome maintenance
Signaling pathway
Core DNA Damage Response
Chromosomal location
2q32.2 (chr2:190656536..190742162)
Protein length
932

Chromosome ideogram

Frequency of somatic alterationsTumor type

Base substitutions, insertions, and deletions

Copy number alterations

Distribution of tumor mutation burdenTMB

List of driver somatic mutations

Genomic Coordinates (GRCh37/hg19) Reference Variant Exon Amino Acid change Coding DNA change COSMIC (v92) Classification No. of Samples
chr2:190660525 C T 3 / 13 p.R55* c.163C>T COSV59721019(SNP) Tier2 1 / 45
chr2:190708761 TA T 6 / 13 p.M219fs c.655delA   Tier2 1 / 45
chr2:190717474 C T 7 / 13 p.R265* c.793C>T   Tier2 1 / 45
chr2:190728500 C T 10 / 13 p.R630* c.1888C>T COSV100575399(SNP) Tier2 1 / 45