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.D99Y

c.295G>T

Surrounding Variants

2 papers

NM_000388.4

p.D99N

c.295G>A

1 paper

NM_000388.4

p.D99H

c.295G>C

1 paper

NM_000388.4

p.D99G

c.296A>G

1 paper

NM_000388.4

p.F98L

c.294T>A

1 paper

NM_000388.4

p.F98F

c.294T>C

1 paper

NM_000388.4

p.F98L

c.294T>G

1 paper

NM_000388.4

p.D99E

c.297C>A

1 paper

NM_000388.4

p.D99E

c.297C>G

1 paper

NM_000388.4

p.F98S

c.293T>C

1 paper

NM_000388.4

p.T100P

c.298A>C

1 paper

NM_000388.4

p.T100S

c.298A>T

2 papers

NM_000388.4

p.F98L

c.292T>C