Varaico: Literature-Extracted Genetic Variants

Gene:TAS1R1
Variant:p.S217C

TAS1R1

152 papers

RefSeq Summary

The protein encoded by this gene is a G protein-coupled receptor and is a component of the heterodimeric amino acid taste receptor T1R1+3. The T1R1+3 receptor responds to L-amino acids but not to D-en...

Pfam Domains

ANF_receptoraa 74–457UCSCReceptor family ligand binding region
NCD3Gaa 492–545UCSCNine Cysteines Domain of family 3 GPCR
7tm_3aa 560–811UCSC7 transmembrane sweet-taste receptor of 3 GCPR

Gene Aliases

HGNC Name

taste 1 receptor member 1

HGNC Previous Symbol

GPR70

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_138697.4
p.S217C
c.649A>T
Surrounding Variants
1 paper
NM_138697.4
p.L223L
c.667C>T
1 paper
NM_138697.4
p.W210*
c.630G>A
2 papers
NM_138697.4
p.Q226E
c.676C>G
1 paper
NM_138697.4
p.K205Q
c.613A>C
1 paper
NM_138697.4
p.T233A
c.697A>G
1 paper
NM_138697.4
p.L201V
c.601C>G
1 paper
NM_138697.4
p.Q235del1
c.703_704delCAG
1 paper
NM_138697.4
p.Q235delFs
c.704_705delAG
2 papers
NM_138697.4
p.I237L
c.709A>C
1 paper
NM_138697.4
p.I237F
c.709A>T
1 paper
NM_138697.4
p.D192E
c.576C>A
1 paper
NM_138697.4
p.D192E
c.576C>G
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