PMS2P1

PMS1 homolog 2, mismatch repair system component pseudogene 1

Basic information

Region (hg38): 7:100328836-100335860

Previous symbols: [ "PMS2L6", "PMS2L8", "PMS2L7", "PMS2L1" ]

Links

ENSG00000078319

∙ NCBI:5379 ∙ OMIM:605038 ∙ HGNC:9123 ∙ Uniprot:A4D2B8 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the PMS2P1 gene.

Inborn genetic diseases (12 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PMS2P1 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			11 clinvar	1 clinvar		12
Total	0	0	11	1	0

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Gene ontology

Biological process: mismatch repair;phosphorylation;somatic hypermutation of immunoglobulin genes
Cellular component: mismatch repair complex;MutLalpha complex
Molecular function: kinase activity;ATPase activity