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.D121insFs

c.362_363ins4

Surrounding Variants

2 papers

NM_000388.4

p.D121fs

c.361_362fs

2 papers

NM_000388.4

p.D121E

c.363T>A

2 papers

NM_000388.4

p.D121E

c.363T>G

2 papers

NM_000388.4

p.S122C

c.365C>G

1 paper

NM_000388.4

p.I120T

c.359T>C

1 paper

NM_000388.4

p.D121del1

c.361_362delGAT

1 paper

NM_000388.4

p.D121_S122delFs

c.361_364del4

1 paper

NM_000388.4

p.L123M

c.367T>A

1 paper

NM_000388.4

p.K119I

c.356A>T

10 papers

NM_000388.4

p.L123S

c.368T>C

30 papers

NM_000388.4

p.N118K

c.354C>A

30 papers

NM_000388.4

p.N118K

c.354C>G