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.I761N

c.2282T>A

Surrounding Variants

1 paper

NM_000388.4

p.I760N

c.2279T>A

1 paper

NM_000388.4

p.I760S

c.2279T>G

1 paper

NM_000388.4

p.I760F

c.2278A>T

2 papers

NM_000388.4

p.I760del1

c.2278_2279delATC

3 papers

NM_000388.4

p.E759A

c.2276A>C

1 paper

NM_000388.4

p.E759K

c.2275G>A

3 papers

NM_000388.4

p.T764A

c.2290A>G

1 paper

NM_000388.4

p.D758E

c.2274T>A

1 paper

NM_000388.4

p.D758E

c.2274T>G

3 papers

NM_000388.4

p.D758A

c.2273A>C

1 paper

NM_000388.4

p.C765S

c.2293T>A

1 paper

NM_000388.4

p.C765R

c.2293T>C