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.L159R

c.476T>G

Surrounding Variants

10 papers

NM_000388.4

p.L159P

c.476T>C

1 paper

NM_000388.4

p.L159V

c.475C>G

4 papers

NM_000388.4

p.L159F

c.475C>T

1 paper

NM_000388.4

p.G158A

c.473G>C

1 paper

NM_000388.4

p.G158R

c.472G>A

1 paper

NM_000388.4

p.G158R

c.472G>C

1 paper

NM_000388.4

p.Y161_I162insFs

c.483_484insC

7 papers

NM_000388.4

p.Y161C

c.482A>G

1 paper

NM_000388.4

p.Y161_I162delFs

c.483_486del4

1 paper

NM_000388.4

p.L157P

c.470T>C

1 paper

NM_000388.4

p.Y161*

c.483C>A

1 paper

NM_000388.4

p.L157V

c.469C>G