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.Q932E

c.2794C>G

Surrounding Variants

1 paper

NM_000388.4

p.Q932L

c.2795A>T

1 paper

NM_000388.4

p.K931Q

c.2791A>C

3 papers

NM_000388.4

p.Q934*

c.2800C>T

1 paper

NM_000388.4

p.Q930*

c.2788C>T

1 paper

NM_000388.4

p.R929S

c.2787G>C

1 paper

NM_000388.4

p.R929S

c.2787G>T

1 paper

NM_000388.4

p.R929K

c.2786G>A

1 paper

NM_000388.4

p.R929G

c.2785A>G

1 paper

NM_000388.4

p.P935A

c.2803C>G

1 paper

NM_000388.4

p.P935L

c.2804C>T

1 paper

NM_000388.4

p.E928D

c.2784G>C

1 paper

NM_000388.4

p.E928D

c.2784G>T