Varaico: Literature-Extracted Genetic Variants

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

2 papers

NM_000388.4

p.S827R

c.2479A>C

Surrounding Variants

1 paper

NM_000388.4

p.S827R

c.2481C>A

1 paper

NM_000388.4

p.S827R

c.2481C>G

1 paper

NM_000388.4

p.T828P

c.2482A>C

8 papers

NM_000388.4

p.A826T

c.2476G>A

10 papers

NM_000388.4

p.T828N

c.2483C>A

2 papers

NM_000388.4

p.T828I

c.2483C>T

4 papers

NM_000388.4

p.Y825F

c.2474A>T

10 papers

NM_000388.4

p.Y829C

c.2486A>G

1 paper

NM_000388.4

p.A824G

c.2471C>G

10 papers

NM_000388.4

p.G830S

c.2488G>A

4 papers

NM_000388.4

p.A824P

c.2470G>C

9 papers

NM_000388.4

p.A824S

c.2470G>T