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.I75L

c.223A>C

Surrounding Variants

1 paper

NM_000388.4

p.I75L

c.223A>T

1 paper

NM_000388.4

p.M74T

c.221T>C

2 papers

NM_000388.4

p.M74L

c.220A>C

2 papers

NM_000388.4

p.M74V

c.220A>G

2 papers

NM_000388.4

p.M74L

c.220A>T

3 papers

NM_000388.4

p.M74fs

c.220_221fs

1 paper

NM_000388.4

p.F76Y

c.227T>A

1 paper

NM_000388.4

p.A73D

c.218C>A

1 paper

NM_000388.4

p.A73V

c.218C>T

5 papers

NM_000388.4

p.M74_F76delFs

c.222_226del5

1 paper

NM_000388.4

p.A73T

c.217G>A

1 paper

NM_000388.4

p.A77V

c.230C>T