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.L34F

c.100C>T

Surrounding Variants

1 paper

NM_000388.4

p.L34_G35ins4

c.100_104ins12

1 paper

NM_000388.4

p.I33I

c.99C>A

3 papers

NM_000388.4

p.L34P

c.101T>C

3 papers

NM_000388.4

p.L34L

c.102T>C

2 papers

NM_000388.4

p.I33T

c.98T>C

1 paper

NM_000388.4

p.I33S

c.98T>G

1 paper

NM_000388.4

p.G36insFs

c.108dupG

1 paper

NM_000388.4

p.G35E

c.104G>A

1 paper

NM_000388.4

p.G35A

c.104G>C

4 papers

NM_000388.4

p.I32V

c.94A>G

1 paper

NM_000388.4

p.I32F

c.94A>T

1 paper

NM_000388.4

p.I32_L34delFs

c.95_102del8