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.L782R

c.2345T>G

Surrounding Variants

2 papers

NM_000388.4

p.C781W

c.2343C>G

1 paper

NM_000388.4

p.T780I

c.2339C>T

1 paper

NM_000388.4

p.A784V

c.2351C>T

1 paper

NM_000388.4

p.T780insFs

c.2338_2339ins4

1 paper

NM_000388.4

p.T780A

c.2338A>G

1 paper

NM_000388.4

p.Y779*

c.2337C>A

1 paper

NM_000388.4

p.Y779*

c.2337C>G

1 paper

NM_000388.4

p.A785G

c.2354C>G

1 paper

NM_000388.4

p.I786V

c.2356A>G

8 papers

NM_000388.4

p.G778D

c.2333G>A

1 paper

NM_000388.4

p.G778S

c.2332G>A

1 paper

NM_000388.4

p.G778R

c.2332G>C