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.P136S

c.406C>T

Surrounding Variants

1 paper

NM_000388.4

p.P136H

c.407C>A

4 papers

NM_000388.4

p.P136L

c.407C>T

12 papers

NM_000388.4

p.S137P

c.409T>C

1 paper

NM_000388.4

p.S137F

c.410C>T

1 paper

NM_000388.4

p.H134R

c.401A>G

1 paper

NM_000388.4

p.T138P

c.412A>C

1 paper

NM_000388.4

p.T138A

c.412A>G

31 papers

NM_000388.4

p.T138M

c.413C>T

2 papers

NM_000388.4

p.E133V

c.398A>T

7 papers

NM_000388.4

p.I139T

c.416T>C

1 paper

NM_000388.4

p.S132*

c.395C>A

1 paper

NM_000388.4

p.S132L

c.395C>T