PRAG1

PEAK1 related, kinase-activating pseudokinase 1

Basic information

Region (hg38): 8:8317735-8386439

Links

ENSG00000275342 ∙ NCBI:157285 ∙ OMIM:617344 ∙ HGNC:25438 ∙ Uniprot:Q86YV5 ∙ 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 PRAG1 gene.

• Inborn genetic diseases (42 variants)
• not provided (10 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PRAG1 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				8		8
missense			42			42
nonsense						0
start loss						0
frameshift						0
inframe indel				1		1
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					1	1
Total	0	0	42	9	1

Variants in PRAG1

This is a list of pathogenic ClinVar variants found in the PRAG1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
8-8318171-G-C		not specified	Uncertain significance (Jan 19, 2024)
8-8318195-C-T		not specified	Uncertain significance (Nov 14, 2023)
8-8318356-G-A		not specified	Uncertain significance (Nov 17, 2023)
8-8318421-G-C		not specified	Uncertain significance (Mar 04, 2024)
8-8318542-C-T		not specified	Uncertain significance (Dec 15, 2022)
8-8318568-G-C		not specified	Uncertain significance (Jan 30, 2024)
8-8318591-A-G		not specified	Uncertain significance (Mar 24, 2023)
8-8318671-C-T		not specified	Uncertain significance (May 04, 2023)
8-8318755-T-C		not specified	Uncertain significance (Oct 12, 2022)
8-8318806-C-T		not specified	Uncertain significance (Jun 29, 2022)
8-8318848-G-A		not specified	Uncertain significance (Jan 02, 2024)
8-8318869-G-T		not specified	Uncertain significance (Jan 31, 2024)
8-8318870-C-A		not specified	Uncertain significance (Aug 19, 2023)
8-8318866-GGGGCG-GGGGCG			Benign (May 25, 2018)
8-8318896-G-A		not specified	Uncertain significance (May 31, 2023)
8-8318911-T-A		not specified	Uncertain significance (May 08, 2023)
8-8318926-T-C		not specified	Uncertain significance (Jul 26, 2022)
8-8318956-C-T		not specified	Uncertain significance (Oct 16, 2023)
8-8318973-C-A		not specified	Uncertain significance (May 09, 2022)
8-8319037-G-T		not specified	Uncertain significance (May 04, 2022)
8-8319061-C-T		not specified	Uncertain significance (Feb 15, 2023)
8-8319062-G-A		not specified	Uncertain significance (Apr 12, 2022)
8-8319134-G-A		not specified	Uncertain significance (Jan 27, 2022)
8-8319137-G-T		not specified	Uncertain significance (Nov 22, 2021)
8-8319157-A-T		not specified	Uncertain significance (Dec 28, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Catalytically inactive protein kinase that acts as a scaffold protein. Functions as an effector of the small GTPase RND2, which stimulates RhoA activity and inhibits NGF-induced neurite outgrowth (By similarity). Promotes Src family kinase (SFK) signaling by regulating the subcellular localization of CSK, a negative regulator of these kinases, leading to the regulation of cell morphology and motility by a CSK-dependent mechanism (By similarity). Acts as a critical coactivator of Notch signaling (By similarity). {ECO:0000250|UniProtKB:D3ZMK9, ECO:0000250|UniProtKB:Q571I4}.

Mouse Genome Informatics

• Gene name: Prag1
• Phenotype: mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span)

Gene ontology

• Biological process: protein phosphorylation;regulation of cell shape;regulation of Notch signaling pathway;negative regulation of neuron projection development;cell migration;positive regulation of Rho protein signal transduction;regulation of cell motility
• Cellular component: nucleus;cytoplasm;focal adhesion
• Molecular function: protein kinase activity;protein binding;ATP binding;identical protein binding