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

2 papers

NM_000388.4

p.R795delFs

c.2383delC

Surrounding Variants

1 paper

NM_000388.4

p.S794C

c.2381C>G

48 papers

NM_000388.4

p.R795W

c.2383C>T

1 paper

NM_000388.4

p.R795fs

c.2383_2384fs

2 papers

NM_000388.4

p.R795Q

c.2384G>A

1 paper

NM_000388.4

p.K796*

c.2386A>T

1 paper

NM_000388.4

p.A791V

c.2372C>T

1 paper

NM_000388.4

p.K796K

c.2388G>A

1 paper

NM_000388.4

p.A791S

c.2371G>T

1 paper

NM_000388.4

p.F790L

c.2370T>A

1 paper

NM_000388.4

p.F790L

c.2370T>G

1 paper

NM_000388.4

p.F790S

c.2369T>C

9 papers

NM_000388.4

p.P798T

c.2392C>A