PARVG

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar	1 clinvar		2
missense			54 clinvar	1 clinvar		55
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			5 clinvar			5
Total	0	0	60	2	0	62

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 66 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_022141.7	RefSeq	NP_071424.1	12	MANE Select
ENST00000444313.8	Ensembl	ENSP00000391583.2	12	MANE Select
NM_001137605.3	RefSeq	NP_001131077.1	12	Standard
ENST00000356909.7	Ensembl	ENSP00000349378.3	6	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Focal adhesion - Homo sapiens (human)
Focal Adhesion
Integrin-linked kinase signaling

Biological Process

cell-matrix adhesion
establishment or maintenance of cell polarity
cell projection assembly
actin cytoskeleton reorganization
substrate adhesion-dependent cell spreading

Molecular Function

actin binding
protein binding

Cellular Component

cytoplasm
cytoskeleton
plasma membrane
focal adhesion
actin cytoskeleton

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000444313
Coding exons: 12
Length: 46578
Individuals with no LoFs: 125705
Homozygous LoFs: 0
Heterozygous LoFs: 43
Defined: 125748
p: 0.000171

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.282	179	190	0.942	0.0000109	2156
Missense (PolyPhen)		47	48.371	0.97166		614
Synonymous	0.0775	86	86.9	0.989	0.00000573	643
Loss of Function	1.91	11	20.3	0.542	0.00000105	230

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00050	0.00049	rare
Latino/Admixed American	0.00015	0.00014	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.00021	0.00021	rare
South Asian	0.00013	0.00013	rare
Other	0.00017	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Probably plays a role in the regulation of cell adhesion and cytoskeleton organization. {ECO:0000250}.;

Recessive Scores

pRec: 0.146

Intolerance Scores

LoFtool: 0.273
RVIS EVS: 0.33
RVIS percentile EVS: 73.54

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.305

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium