PMS2 gene homepage - CanVaS - A Greek Cancer Patient Genetic Variation Resource

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CanVaS - A Greek Cancer Patient Genetic Variation Resource

PMS2 (PMS1 homolog 2, mismatch repair system component)

LOVD v.3.0 Build 23 [ Current LOVD status ]
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	Curator: Despoina Kalfakakou

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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	618
Unique public DNA variants reported	116
Individuals with public variants	448
Hidden variants	0
Date created	May 20, 2020
Date last updated	May 16, 2022
Version	PMS2:220516

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

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

ID	Chr	Name	NCBI ID	NCBI Protein ID	Variants
00000162	7	PMS2 postmeiotic segregation increased 2 (S. cerevisiae), transcript variant 1	NM_000535.5	NP_000526.1	618

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