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

20 papers

NM_000388.4

p.F832S

c.2495T>C

Surrounding Variants

1 paper

NM_000388.4

p.F832C

c.2495T>G

2 papers

NM_000388.4

p.F832L

c.2496T>A

2 papers

NM_000388.4

p.F832L

c.2494T>C

2 papers

NM_000388.4

p.F832L

c.2496T>G

1 paper

NM_000388.4

p.K831T

c.2492A>C

1 paper

NM_000388.4

p.V833A

c.2498T>C

1 paper

NM_000388.4

p.K831Q

c.2491A>C

1 paper

NM_000388.4

p.K831E

c.2491A>G

1 paper

NM_000388.4

p.S834delFs

c.2501delC

2 papers

NM_000388.4

p.G830A

c.2489G>C

10 papers

NM_000388.4

p.G830S

c.2488G>A

13 papers

NM_000388.4

p.A835T

c.2503G>A