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.R96S

c.288G>T

Surrounding Variants

1 paper

NM_000388.4

p.R96S

c.288G>C

2 papers

NM_000388.4

p.I97L

c.289A>C

1 paper

NM_000388.4

p.I97V

c.289A>G

1 paper

NM_000388.4

p.I97L

c.289A>T

1 paper

NM_000388.4

p.R96G

c.286A>G

1 paper

NM_000388.4

p.I97M

c.291A>G

1 paper

NM_000388.4

p.F98delFs

c.292_293delTT

2 papers

NM_000388.4

p.Y95C

c.284A>G

2 papers

NM_000388.4

p.F98L

c.292T>C

1 paper

NM_000388.4

p.F98S

c.293T>C

1 paper

NM_000388.4

p.Y95_N102del8

c.283_305del24

1 paper

NM_000388.4

p.F98L

c.294T>A