Homo sapiens PMS1 homolog 2, mismatch repair system component (PMS2), - Nucleotide

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In vitro data suggest a role for PMS2 Kozak sequence mutations in Lynch syndrome risk. [HGG Adv. 2024]
In vitro data suggest a role for PMS2 Kozak sequence mutations in Lynch syndrome risk.
Matoy EJ, Plowman JN, Watson CJ, Belshan MA, Blue EE, Huff CD, Stessman HAF. HGG Adv. 2024 Jul 18; 5(3):100298. Epub 2024 Apr 22.
A Validated Highly Sensitive Microsatellite Instability Assay Accurately Identifies Individuals Harboring Biallelic Germline PMS2 Pathogenic Variants in Constitutional Mismatch Repair Deficiency. [Clin Chem. 2024]
A Validated Highly Sensitive Microsatellite Instability Assay Accurately Identifies Individuals Harboring Biallelic Germline PMS2 Pathogenic Variants in Constitutional Mismatch Repair Deficiency.
Marín F, Canet-Hermida J, Bianchi V, Chung J, Wimmer K, Foulkes W, Pérez-Alonso V, Domínguez-Pinilla N, Sábado C, Vázquez-Gómez F, et al. Clin Chem. 2024 May 2; 70(5):737-746.
Genotype-phenotype correlations in carriers of the PMS2 founder variant c.1831dup. [Mol Genet Genomic Med. 2024]
Genotype-phenotype correlations in carriers of the PMS2 founder variant c.1831dup.
Gass M, Seebauer B, Thommen A, Fischler A, Heinimann K. Mol Genet Genomic Med. 2024 Jan; 12(1):e2360.

RefSeq alternative splicing
See 75 reference mRNA sequence splice variants for the PMS2 gene.
RefSeq protein product
See the reference protein sequence for mismatch repair endonuclease PMS2 isoform g (NP_001308940.1).

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Protein sequence from Nucleotide coding region
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Nucleotide