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.R233G

c.697A>G

Surrounding Variants

1 paper

NM_000388.4

p.R233M

c.698G>T

1 paper

NM_000388.4

p.E232A

c.695A>C

2 papers

NM_000388.4

p.E231_E232insFs

c.693_694insG

1 paper

NM_000388.4

p.E231insFs

c.692_693insT

1 paper

NM_000388.4

p.E231insFs

c.692_693insTG

1 paper

NM_000388.4

p.E231A

c.692A>C

1 paper

NM_000388.4

p.E231K

c.691G>A

1 paper

NM_000388.4

p.E231insFs

c.691dupG

3 papers

NM_000388.4

p.C236S

c.706T>A

1 paper

NM_000388.4

p.C236G

c.706T>G

1 paper

NM_000388.4

p.C236Y

c.707G>A

3 papers

NM_000388.4

p.C236S

c.707G>C