Varaico: Literature-Extracted Genetic Variants

Gene:CASR
Variant:p.Y4C

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.Y4C
c.11A>G
Surrounding Variants
1 paper
NM_000388.4
p.Y4F
c.11A>T
1 paper
NM_000388.4
p.S5R
c.13A>C
1 paper
NM_000388.4
p.S5Fs
c.13_15delinsAFs
2 papers
NM_000388.4
p.F3L
c.9T>A
1 paper
NM_000388.4
p.F3L
c.9T>G
1 paper
NM_000388.4
p.S5Fs
c.13_15delinsACGCTFs
1 paper
NM_000388.4
p.S5R
c.15C>A
1 paper
NM_000388.4
p.S5R
c.15C>G
1 paper
NM_000388.4
p.F3L
c.7T>C
1 paper
NM_000388.4
p.C6S
c.16T>A
1 paper
NM_000388.4
p.C6G
c.16T>G
1 paper
NM_000388.4
p.A2E
c.5C>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."