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.G146insFs

c.436_437insAA

Surrounding Variants

1 paper

NM_000388.4

p.G146S

c.436G>A

2 papers

NM_000388.4

p.G146D

c.437G>A

1 paper

NM_000388.4

p.G146A

c.437G>C

1 paper

NM_000388.4

p.T145S

c.434C>G

4 papers

NM_000388.4

p.T145I

c.434C>T

1 paper

NM_000388.4

p.T145_G148Fs

c.433_442delinsAGAFs

13 papers

NM_000388.4

p.T145A

c.433A>G

1 paper

NM_000388.4

p.T145S

c.433A>T

16 papers

NM_000388.4

p.S147A

c.439T>G

2 papers

NM_000388.4

p.S147L

c.440C>T

22 papers

NM_000388.4

p.G143E

c.428G>A

6 papers

NM_000388.4

p.V149I

c.445G>A