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.F204L

c.610T>C

Surrounding Variants

1 paper

NM_000388.4

p.F204I

c.610T>A

2 papers

NM_000388.4

p.F204S

c.611T>C

1 paper

NM_000388.4

p.F204L

c.612C>A

1 paper

NM_000388.4

p.F204L

c.612C>G

7 papers

NM_000388.4

p.R205C

c.613C>T

1 paper

NM_000388.4

p.R205H

c.614G>A

2 papers

NM_000388.4

p.I201V

c.601A>G

1 paper

NM_000388.4

p.N207N

c.621C>T

1 paper

NM_000388.4

p.I200N

c.599T>A

1 paper

NM_000388.4

p.I200_I201insFs

c.600_601dupCA

1 paper

NM_000388.4

p.W208*

c.623G>A

2 papers

NM_000388.4

p.W208S

c.623G>C