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.R886Q

c.2657G>A

Surrounding Variants

11 papers

NM_000388.4

p.R886P

c.2657G>C

9 papers

NM_000388.4

p.R886W

c.2656C>T

1 paper

NM_000388.4

p.A885D

c.2654C>A

1 paper

NM_000388.4

p.A887D

c.2660C>A

9 papers

NM_000388.4

p.T888A

c.2662A>G

1 paper

NM_000388.4

p.T888S

c.2662A>T

15 papers

NM_000388.4

p.T888M

c.2663C>T

1 paper

NM_000388.4

p.A884ins1

c.2650_2651insGCT

1 paper

NM_000388.4

p.L889V

c.2665C>G

1 paper

NM_000388.4

p.V883_A884ins1

c.2649_2650insGCT

1 paper

NM_000388.4

p.V883A

c.2648T>C

3 papers

NM_000388.4

p.V883M

c.2647G>A