Varaico: Literature-Extracted Genetic Variants

Gene:CASR

CASR

1,267 papers

RefSeq Summary

The protein encoded by this gene is a plasma membrane G protein-coupled receptor that senses small changes in circulating calcium concentration. The encoded protein couples this information to intrace...

Pfam Domains

ANF_receptoraa 69–497UCSCReceptor family ligand binding region
NCD3Gaa 537–591UCSCNine Cysteines Domain of family 3 GPCR
7tm_3aa 606–856UCSC7 transmembrane sweet-taste receptor of 3 GCPR

Gene Aliases

HGNC Name

calcium sensing receptor

HGNC Previous Symbols

HHC; HHC1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 2051 variants
221 papers
NM_000388.4
p.A986S
c.2956G>T
196 papers
NM_000388.4
p.R990G
c.2968A>G
118 papers
NM_000388.4
p.R185Q
c.554G>A
72 papers
NM_000388.4
p.A843E
c.2528C>A
53 papers
NM_000388.4
p.P221L
c.662C>T
53 papers
NM_000388.4
p.E297K
c.889G>A
50 papers
NM_000388.4
p.L125P
c.374T>C
49 papers
NM_000388.4
p.T151M
c.452C>T
48 papers
NM_000388.4
p.R795W
c.2383C>T
47 papers
NM_000388.4
p.P55L
c.164C>T
38 papers
NM_000388.4
p.F788C
c.2363T>G
37 papers
NM_000388.4
p.F128L
c.384C>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."