Varaico: Literature-Extracted Genetic Variants

Gene:CASR
Variant:p.F688F

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
Selected Variant
1 paper
NM_000388.4
p.F688F
c.2064C>T
Surrounding Variants
12 papers
NM_000388.4
p.V689M
c.2065G>A
1 paper
NM_000388.4
p.S687S
c.2061C>T
2 papers
NM_000388.4
p.L690F
c.2068C>T
1 paper
NM_000388.4
p.C691S
c.2071T>A
5 papers
NM_000388.4
p.I686V
c.2056A>G
1 paper
NM_000388.4
p.C691Y
c.2072G>A
1 paper
NM_000388.4
p.C691S
c.2072G>C
1 paper
NM_000388.4
p.I692_S693insT
c.2074_2078ins3
1 paper
NM_000388.4
p.I692_S693insTG
c.2074_2078ins6
1 paper
NM_000388.4
p.I692V
c.2074A>G
1 paper
NM_000388.4
p.G685_F688del4
c.2053_2063del12
1 paper
NM_000388.4
p.F684Y
c.2051T>A
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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."