Varaico: Literature-Extracted Genetic Variants

Gene:CASR
Variant:p.F821L

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
19 papers
NM_000388.4
p.F821L
c.2463C>G
Surrounding Variants
19 papers
NM_000388.4
p.F821L
c.2463C>A
1 paper
NM_000388.4
p.F821C
c.2462T>G
19 papers
NM_000388.4
p.F821L
c.2461T>C
1 paper
NM_000388.4
p.I822T
c.2465T>C
2 papers
NM_000388.4
p.S820Y
c.2459C>A
6 papers
NM_000388.4
p.P823A
c.2467C>G
1 paper
NM_000388.4
p.S820C
c.2459C>G
19 papers
NM_000388.4
p.S820F
c.2459C>T
1 paper
NM_000388.4
p.P823S
c.2467C>T
1 paper
NM_000388.4
p.P823R
c.2468C>G
3 papers
NM_000388.4
p.S820A
c.2458T>G
1 paper
NM_000388.4
p.I819M
c.2457C>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."