CAMKV

CaM kinase like vesicle associated, the group of Calmodulin dependent protein kinases

Basic information

Region (hg38): 3:49857988-49869935

Links

ENSG00000164076 ∙ NCBI:79012 ∙ OMIM:614993 ∙ HGNC:28788 ∙ Uniprot:Q8NCB2 ∙ 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 CAMKV gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CAMKV 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					2	2
missense			10	1		11
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					1	1
Total	0	0	10	1	3

Variants in CAMKV

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

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

Position	Type	Phenotype	Significance	ClinVar
3-49859401-C-T		not specified	Likely benign (Jun 28, 2022)
3-49859439-G-A		not specified	Uncertain significance (Dec 14, 2023)
3-49859458-C-A		not specified	Uncertain significance (Jan 04, 2024)
3-49859504-C-A		not specified	Uncertain significance (Mar 29, 2023)
3-49859511-G-A		not specified	Uncertain significance (Aug 02, 2021)
3-49859559-G-A		not specified	Uncertain significance (Dec 13, 2022)
3-49859668-C-T		not specified	Uncertain significance (Jul 13, 2021)
3-49859674-G-A		not specified	Uncertain significance (Jul 26, 2022)
3-49860567-A-G			Benign (Jun 25, 2021)
3-49860840-A-G			Benign (Jun 25, 2021)
3-49860994-C-T		not specified	Uncertain significance (Sep 20, 2023)
3-49860996-C-A		not specified	Uncertain significance (Apr 27, 2023)
3-49862099-C-T		not specified	Uncertain significance (Jan 17, 2023)
3-49862362-G-A			Benign (Apr 08, 2020)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CAMKV	protein_coding	protein_coding	ENST00000477224	10	12235

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.997	0.00304	125740	0	3	125743	0.0000119

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	3.32	142	305	0.465	0.0000181	3253
Missense in Polyphen		57	172.89	0.32969		1878
Synonymous	0.644	109	118	0.925	0.00000689	1019
Loss of Function	4.09	1	21.4	0.0466	0.00000109	255

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000270	0.0000264
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Does not appear to have detectable kinase activity.

Recessive Scores

• pRec: 0.148

Intolerance Scores

• loftool: 0.242
• rvis_EVS: -0.49
• rvis_percentile_EVS: 22.09

Haploinsufficiency Scores

• pHI: 0.914
• hipred: Y
• hipred_score: 0.837
• ghis: 0.612

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.921

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Camkv

Gene ontology

• Biological process: protein phosphorylation;regulation of modification of postsynaptic structure
• Cellular component: plasma membrane;cytoplasmic vesicle membrane;glutamatergic synapse
• Molecular function: calmodulin-dependent protein kinase activity;calmodulin binding;ATP binding