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.F789C

c.2366T>G

Surrounding Variants

1 paper

NM_000388.4

p.F789S

c.2366T>C

1 paper

NM_000388.4

p.F789L

c.2367C>A

1 paper

NM_000388.4

p.F789L

c.2367C>G

1 paper

NM_000388.4

p.F789L

c.2365T>C

4 papers

NM_000388.4

p.F788L

c.2364C>A

4 papers

NM_000388.4

p.F788L

c.2364C>G

1 paper

NM_000388.4

p.F790L

c.2368T>C

1 paper

NM_000388.4

p.F788S

c.2363T>C

1 paper

NM_000388.4

p.F790S

c.2369T>C

39 papers

NM_000388.4

p.F788C

c.2363T>G

NM_001178065.2

p.F798C

c.2393T>G

2 papers

NM_000388.4

p.F788delFs

c.2364delC

1 paper

NM_000388.4

p.F790L

c.2370T>A