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.T732A

c.2194A>G

Surrounding Variants

3 papers

NM_000388.4

p.M734T

c.2201T>C

10 papers

NM_000388.4

p.M734R

c.2201T>G

1 paper

NM_000388.4

p.Q735K

c.2203C>A

1 paper

NM_000388.4

p.Q735P

c.2204A>C

1 paper

NM_000388.4

p.Q735Q

c.2205G>A

1 paper

NM_000388.4

p.V728A

c.2183T>C

4 papers

NM_000388.4

p.V728I

c.2182G>A

1 paper

NM_000388.4

p.V728F

c.2182G>T

8 papers

NM_000388.4

p.L727Q

c.2180T>A

1 paper

NM_000388.4

p.L727P

c.2180T>C

1 paper

NM_000388.4

p.V737I

c.2209G>A

1 paper

NM_000388.4

p.V737A

c.2210T>C