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.I200N

c.599T>A

Surrounding Variants

1 paper

NM_000388.4

p.I200_I201insFs

c.600_601dupCA

2 papers

NM_000388.4

p.I201V

c.601A>G

8 papers

NM_000388.4

p.I200del1

c.598_599delATC

1 paper

NM_000388.4

p.D199N

c.595G>A

1 paper

NM_000388.4

p.A198E

c.593C>A

1 paper

NM_000388.4

p.A198V

c.593C>T

1 paper

NM_000388.4

p.A198S

c.592G>T

1 paper

NM_000388.4

p.M197T

c.590T>C

1 paper

NM_000388.4

p.F204I

c.610T>A

1 paper

NM_000388.4

p.F204L

c.610T>C

2 papers

NM_000388.4

p.F204S

c.611T>C

1 paper

NM_000388.4

p.F204L

c.612C>A