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.L666insFs

c.1997_1998insT

Surrounding Variants

1 paper

NM_000388.4

p.S664S

c.1992C>T

1 paper

NM_000388.4

p.S664insFs

c.1991_1992ins4

1 paper

NM_000388.4

p.F668Y

c.2003T>A

1 paper

NM_000388.4

p.F668L

c.2004C>A

1 paper

NM_000388.4

p.S663T

c.1987T>A

23 papers

NM_000388.4

p.G670R

c.2008G>A

NM_001178065.2

p.G680R

c.2038G>A

23 papers

NM_000388.4

p.G670R

c.2008G>C

NM_001178065.2

p.G680R

c.2038G>C

1 paper

NM_000388.4

p.F662L

c.1984T>C

17 papers

NM_000388.4

p.G670E

c.2009G>A

1 paper

NM_000388.4

p.G670A

c.2009G>C

2 papers

NM_000388.4

p.C661Y

c.1982G>A

1 paper

NM_000388.4

p.E671K

c.2011G>A