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.L13L

c.39C>T

Surrounding Variants

8 papers

NM_000388.4

p.T14A

c.40A>G

14 papers

NM_000388.4

p.L13P

c.38T>C

3 papers

NM_000388.4

p.L13delFs

c.39delC

1 paper

NM_000388.4

p.L13F

c.37C>T

1 paper

NM_000388.4

p.L13insFs

c.37_38insC

1 paper

NM_000388.4

p.A12E

c.35C>A

1 paper

NM_000388.4

p.A12V

c.35C>T

1 paper

NM_000388.4

p.W15*

c.44G>A

2 papers

NM_000388.4

p.W15L

c.44G>T

1 paper

NM_000388.4

p.W15*

c.45G>A

1 paper

NM_000388.4

p.A12_L13delFs

c.34_37del4

1 paper

NM_000388.4

p.H16delins

c.46_47delinsAA