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.S132L

c.395C>T

Surrounding Variants

1 paper

NM_000388.4

p.S132*

c.395C>A

1 paper

NM_000388.4

p.S132T

c.394T>A

30 papers

NM_000388.4

p.C131W

c.393C>G

1 paper

NM_000388.4

p.C131C

c.393C>T

2 papers

NM_000388.4

p.E133V

c.398A>T

6 papers

NM_000388.4

p.C131Y

c.392G>A

13 papers

NM_000388.4

p.C131S

c.392G>C

5 papers

NM_000388.4

p.C131F

c.392G>T

13 papers

NM_000388.4

p.C131S

c.391T>A

1 paper

NM_000388.4

p.C131G

c.391T>G

1 paper

NM_000388.4

p.H134R

c.401A>G

1 paper

NM_000388.4

p.C129W

c.387C>G