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.G720G

c.2160G>A

Surrounding Variants

1 paper

NM_000388.4

p.L721F

c.2161C>T

1 paper

NM_000388.4

p.G720A

c.2159G>C

1 paper

NM_000388.4

p.W719L

c.2156G>T

1 paper

NM_000388.4

p.N722K

c.2166C>A

1 paper

NM_000388.4

p.N722K

c.2166C>G

9 papers

NM_000388.4

p.W718*

c.2154G>A

9 papers

NM_000388.4

p.W718*

c.2153G>A

19 papers

NM_000388.4

p.L723Q

c.2168T>A

1 paper

NM_000388.4

p.W718R

c.2152T>A

1 paper

NM_000388.4

p.W718R

c.2152T>C

3 papers

NM_000388.4

p.L723R

c.2168T>G

1 paper

NM_000388.4

p.W718G

c.2152T>G