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

11 papers

NM_000388.4

p.R66H

c.197G>A

Surrounding Variants

1 paper

NM_000388.4

p.R66L

c.197G>T

27 papers

NM_000388.4

p.R66C

c.196C>T

2 papers

NM_000388.4

p.G67delFs

c.200delG

1 paper

NM_000388.4

p.F65L

c.195C>A

2 papers

NM_000388.4

p.F65_R66insFs

c.195_196insA

2 papers

NM_000388.4

p.F65_R66insFs

c.195_196insT

1 paper

NM_000388.4

p.F65F

c.195C>T

3 papers

NM_000388.4

p.N64D

c.190A>G

1 paper

NM_000388.4

p.N64Y

c.190A>T

1 paper

NM_000388.4

p.R69insFs

c.205dupC

4 papers

NM_000388.4

p.R69C

c.205C>T

4 papers

NM_000388.4

p.Y63C

c.188A>G