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.D674A

c.2021A>C

Surrounding Variants

1 paper

NM_000388.4

p.D674E

c.2022C>A

1 paper

NM_000388.4

p.D674E

c.2022C>G

1 paper

NM_000388.4

p.W675*

c.2024G>A

1 paper

NM_000388.4

p.Q673*

c.2017C>T

1 paper

NM_000388.4

p.W675*

c.2025G>A

2 papers

NM_000388.4

p.T676R

c.2027C>G

2 papers

NM_000388.4

p.T676M

c.2027C>T

1 paper

NM_000388.4

p.P672S

c.2014C>T

2 papers

NM_000388.4

p.E671D

c.2013G>C

2 papers

NM_000388.4

p.E671D

c.2013G>T

2 papers

NM_000388.4

p.E671A

c.2012A>C

2 papers

NM_000388.4

p.E671V

c.2012A>T