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

2 papers

NM_000388.4

p.P22insFs

c.65_66ins4

Surrounding Variants

1 paper

NM_000388.4

p.P22P

c.66A>C

1 paper

NM_000388.4

p.D23H

c.67G>C

1 paper

NM_000388.4

p.Q24_R25delFs

c.70_73del4

2 papers

NM_000388.4

p.D23E

c.69C>A

2 papers

NM_000388.4

p.D23E

c.69C>G

6 papers

NM_000388.4

p.G21R

c.61G>A

6 papers

NM_000388.4

p.G21R

c.61G>C

1 paper

NM_000388.4

p.G21_P22delFs

c.62_66del5

1 paper

NM_000388.4

p.Y20*

c.60C>A

2 papers

NM_000388.4

p.Y20*

c.60C>G

1 paper

NM_000388.4

p.Y20C

c.59A>G

1 paper

NM_000388.4

p.G21_P22delFs

c.61_64del4