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.W208*

c.623G>A

Surrounding Variants

2 papers

NM_000388.4

p.W208S

c.623G>C

1 paper

NM_000388.4

p.W208*

c.624G>A

1 paper

NM_000388.4

p.W208C

c.624G>C

1 paper

NM_000388.4

p.W208C

c.624G>T

1 paper

NM_000388.4

p.N207N

c.621C>T

1 paper

NM_000388.4

p.V209A

c.626T>C

1 paper

NM_000388.4

p.V209G

c.626T>G

1 paper

NM_000388.4

p.G210_T211delFs

c.628_631del4

1 paper

NM_000388.4

p.G210S

c.628G>A

1 paper

NM_000388.4

p.T211R

c.632C>G

1 paper

NM_000388.4

p.R205H

c.614G>A

7 papers

NM_000388.4

p.R205C

c.613C>T