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

1 paper

NM_000388.4

p.I212V

c.634A>G

Surrounding Variants

6 papers

NM_000388.4

p.I212T

c.635T>C

2 papers

NM_000388.4

p.I212S

c.635T>G

1 paper

NM_000388.4

p.T211R

c.632C>G

1 paper

NM_000388.4

p.A213E

c.638C>A

1 paper

NM_000388.4

p.A213G

c.638C>G

1 paper

NM_000388.4

p.G210S

c.628G>A

1 paper

NM_000388.4

p.A214V

c.641C>T

1 paper

NM_000388.4

p.G210_T211delFs

c.628_631del4

1 paper

NM_000388.4

p.V209A

c.626T>C

1 paper

NM_000388.4

p.V209G

c.626T>G

1 paper

NM_000388.4

p.D215A

c.644A>C

22 papers

NM_000388.4

p.D215G

c.644A>G