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.I692V

c.2074A>G

Surrounding Variants

1 paper

NM_000388.4

p.I692_S693insT

c.2074_2078ins3

1 paper

NM_000388.4

p.I692_S693insTG

c.2074_2078ins6

1 paper

NM_000388.4

p.C691Y

c.2072G>A

1 paper

NM_000388.4

p.C691S

c.2072G>C

1 paper

NM_000388.4

p.C691S

c.2071T>A

1 paper

NM_000388.4

p.S693_C694insG

c.2077_2081ins3

2 papers

NM_000388.4

p.L690F

c.2068C>T

1 paper

NM_000388.4

p.I695_V702ins2

c.2083_2106dup24

1 paper

NM_001178065.2

p.C704insFs

c.2111_2112insT

1 paper

NM_000388.4

p.I695V

c.2083A>G

12 papers

NM_000388.4

p.V689M

c.2065G>A

1 paper

NM_000388.4

p.F688F

c.2064C>T