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.I841F

c.2521A>T

Surrounding Variants

11 papers

NM_000388.4

p.A840V

c.2519C>T

1 paper

NM_000388.4

p.L842P

c.2525T>C

2 papers

NM_000388.4

p.I839T

c.2516T>C

1 paper

NM_000388.4

p.A843P

c.2527G>C

72 papers

NM_000388.4

p.A843E

c.2528C>A

2 papers

NM_000388.4

p.A843V

c.2528C>T

1 paper

NM_000388.4

p.V838A

c.2513T>C

10 papers

NM_000388.4

p.A844T

c.2530G>A

2 papers

NM_000388.4

p.A844P

c.2530G>C

3 papers

NM_000388.4

p.A844V

c.2531C>T

6 papers

NM_000388.4

p.E837D

c.2511G>C

6 papers

NM_000388.4

p.E837D

c.2511G>T