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.I292_W293del2

c.874_878del6

Surrounding Variants

1 paper

NM_000388.4

p.T289R

c.866C>G

1 paper

NM_000388.4

p.T289M

c.866C>T

2 papers

NM_000388.4

p.W293*

c.878G>A

1 paper

NM_000388.4

p.T289A

c.865A>G

2 papers

NM_000388.4

p.W293*

c.879G>A

1 paper

NM_000388.4

p.L294M

c.880C>A

1 paper

NM_000388.4

p.I288V

c.862A>G

1 paper

NM_000388.4

p.S296R

c.886A>C

4 papers

NM_000388.4

p.S296N

c.887G>A

2 papers

NM_000388.4

p.R286H

c.857G>A

1 paper

NM_000388.4

p.S296R

c.888C>A

1 paper

NM_000388.4

p.S296R

c.888C>G