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.V255_V256insCAG

c.763_767ins9

Surrounding Variants

1 paper

NM_000388.4

p.V255M

c.763G>A

3 papers

NM_000388.4

p.V255E

c.764T>A

2 papers

NM_000388.4

p.V255A

c.764T>C

1 paper

NM_000388.4

p.V255V

c.765G>A

2 papers

NM_000388.4

p.H254Y

c.760C>T

1 paper

NM_000388.4

p.V256I

c.766G>A

1 paper

NM_000388.4

p.Q253H

c.759G>C

1 paper

NM_000388.4

p.Q253H

c.759G>T

1 paper

NM_000388.4

p.V256A

c.767T>C

1 paper

NM_000388.4

p.Q253L

c.758A>T

2 papers

NM_000388.4

p.Q253K

c.757C>A

1 paper

NM_000388.4

p.E257G

c.770A>G