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.F42S

c.125T>C

Surrounding Variants

1 paper

NM_000388.4

p.F42insFs

c.124_125ins4

3 papers

NM_000388.4

p.G43R

c.127G>A

2 papers

NM_000388.4

p.G43R

c.127G>C

3 papers

NM_000388.4

p.H41R

c.122A>G

5 papers

NM_000388.4

p.G43E

c.128G>A

1 paper

NM_000388.4

p.G43_V44insFs

c.129_130insA

2 papers

NM_000388.4

p.H41N

c.121C>A

1 paper

NM_000388.4

p.V44I

c.130G>A

1 paper

NM_000388.4

p.V44E

c.131T>A

1 paper

NM_000388.4

p.I40T

c.119T>C

1 paper

NM_000388.4

p.I40V

c.118A>G

4 papers

NM_000388.4

p.I40F

c.118A>T