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.P85A

c.253C>G

Surrounding Variants

1 paper

NM_000388.4

p.S84R

c.252C>A

1 paper

NM_000388.4

p.S84R

c.252C>G

1 paper

NM_000388.4

p.P85L

c.254C>T

1 paper

NM_000388.4

p.P85_A86ins1

c.255_256insCAG

1 paper

NM_000388.4

p.P85_A86insFs

c.255_256ins19

1 paper

NM_000388.4

p.S84_A86del0

c.252_257del6

1 paper

NM_000388.4

p.S84R

c.250A>C

1 paper

NM_000388.4

p.S84G

c.250A>G

1 paper

NM_000388.4

p.A86S

c.256G>T

1 paper

NM_000388.4

p.A86D

c.257C>A

1 paper

NM_000388.4

p.S83_S84delFs

c.249_252del4

1 paper

NM_000388.4

p.S83C

c.247A>T