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gene: TAS2R38

id5726
symbolTAS2R38
organismHomo sapiens
full nametaste 2 receptor member 38
summaryThis gene encodes a seven-transmembrane G protein-coupled receptor that controls the ability to taste glucosinolates, a family of bitter-tasting compounds found in plants of the Brassica sp. Synthetic compounds phenylthiocarbamide (PTC) and 6-n-propylthiouracil (PROP) have been identified as ligands for this receptor and have been used to test the genetic diversity of this gene. Although several allelic forms of this gene have been identified worldwide, there are two predominant common forms (taster and non-taster) found outside of Africa. These alleles differ at three nucleotide positions resulting in amino acid changes in the protein (A49P, A262V, and V296I) with the amino acid combination PAV identifying the taster variant (and AVI identifying the non-taster variant). [provided by RefSeq, Oct 2009]
variant-disease

NM_176817.5(TAS2R38):c.785= (p.Ala262=) AND Phenylthiocarbamide tasting

NM_176817.5(TAS2R38):c.886A>G (p.Ile296Val) AND Phenylthiocarbamide tasting

NM_176817.5(TAS2R38):c.145G>C (p.Ala49Pro) AND Phenylthiocarbamide tasting

GRCh37/hg19 7q34-35(chr7:139623170-143710268)x3 AND not provided

GRCh38/hg38 7q34-35(chr7:140061285-144622893)x3 AND See cases

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