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

25 papers

NM_000388.4

p.E767K

c.2299G>A

Surrounding Variants

9 papers

NM_000388.4

p.E767Q

c.2299G>C

5 papers

NM_000388.4

p.E767A

c.2300A>C

1 paper

NM_000388.4

p.H766Q

c.2298C>A

1 paper

NM_000388.4

p.H766Q

c.2298C>G

1 paper

NM_000388.4

p.E767E

c.2301G>A

1 paper

NM_000388.4

p.E767D

c.2301G>C

1 paper

NM_000388.4

p.E767D

c.2301G>T

1 paper

NM_000388.4

p.H766N

c.2296C>A

3 papers

NM_000388.4

p.C765W

c.2295C>G

5 papers

NM_000388.4

p.G768V

c.2303G>T

1 paper

NM_000388.4

p.C765S

c.2294G>C

1 paper

NM_001178065.2

p.C775insFs

c.2324_2325insT