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.I81L

c.241A>C

Surrounding Variants

1 paper

NM_000388.4

p.I81L

c.241A>T

11 papers

NM_000388.4

p.I81K

c.242T>A

3 papers

NM_000388.4

p.I81T

c.242T>C

2 papers

NM_000388.4

p.I81M

c.243A>G

1 paper

NM_000388.4

p.E80K

c.238G>A

1 paper

NM_000388.4

p.E80Q

c.238G>C

1 paper

NM_000388.4

p.N82K

c.246C>A

1 paper

NM_000388.4

p.N82K

c.246C>G

1 paper

NM_000388.4

p.S83C

c.247A>T

1 paper

NM_000388.4

p.E79K

c.235G>A

1 paper

NM_000388.4

p.S83_S84delFs

c.249_252del4

1 paper

NM_000388.4

p.S84R

c.250A>C