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.V838A

c.2513T>C

Surrounding Variants

6 papers

NM_000388.4

p.E837D

c.2511G>C

6 papers

NM_000388.4

p.E837D

c.2511G>T

20 papers

NM_000388.4

p.E837A

c.2510A>C

2 papers

NM_000388.4

p.I839T

c.2516T>C

4 papers

NM_000388.4

p.E837K

c.2509G>A

1 paper

NM_000388.4

p.E837Q

c.2509G>C

1 paper

NM_000388.4

p.E837*

c.2509G>T

1 paper

NM_000388.4

p.V836V

c.2508A>G

11 papers

NM_000388.4

p.A840V

c.2519C>T

1 paper

NM_000388.4

p.V836I

c.2506G>A

13 papers

NM_000388.4

p.V836L

c.2506G>C

13 papers

NM_000388.4

p.V836L

c.2506G>T