TAS2R30

taste 2 receptor member 30, the group of Taste 2 receptors

Basic information

Region (hg38): 12:11132958-11134644

Previous symbols: [ "TAS2R47" ]

Links

ENSG00000256188 ∙ NCBI:259293 ∙ OMIM:613963 ∙ HGNC:19112 ∙ Uniprot:P59541 ∙ 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 TAS2R30 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TAS2R30 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				1		1
missense			19	1		20
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	19	2	0

Variants in TAS2R30

This is a list of pathogenic ClinVar variants found in the TAS2R30 region.

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

Position	Type	Phenotype	Significance	ClinVar
12-11133302-C-T		not specified	Uncertain significance (Dec 16, 2023)
12-11133334-C-T		not specified	Uncertain significance (Feb 27, 2024)
12-11133355-A-T		not specified	Uncertain significance (Sep 01, 2021)
12-11133359-G-A		not specified	Uncertain significance (Oct 22, 2021)
12-11133410-G-C		not specified	Uncertain significance (May 06, 2022)
12-11133499-A-G		not specified	Uncertain significance (Jun 18, 2024)
12-11133503-A-G		not specified	Uncertain significance (Dec 17, 2023)
12-11133566-C-T		not specified	Uncertain significance (Nov 06, 2023)
12-11133602-C-T		not specified	Uncertain significance (Aug 04, 2023)
12-11133610-T-C		not specified	Uncertain significance (Sep 13, 2023)
12-11133753-C-G		not specified	Uncertain significance (Feb 28, 2023)
12-11133882-T-C		not specified	Uncertain significance (Dec 14, 2021)
12-11133910-T-C		not specified	Uncertain significance (Jul 28, 2021)
12-11133933-C-T		not specified	Likely benign (Jun 02, 2023)
12-11134040-T-C		not specified	Uncertain significance (May 31, 2023)
12-11134050-A-T		not specified	Uncertain significance (Nov 17, 2023)
12-11134066-C-A		not specified	Uncertain significance (Feb 06, 2023)
12-11134089-C-T		not specified	Likely benign (Feb 21, 2024)
12-11134164-T-C		not specified	Uncertain significance (Nov 08, 2022)
12-11134188-A-C		not specified	Uncertain significance (May 27, 2022)
12-11134199-T-A		not specified	Uncertain significance (Jun 11, 2021)
12-11134216-G-A		not specified	Uncertain significance (Jul 06, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP