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

4 papers

NM_000388.4

p.V728I

c.2182G>A

Surrounding Variants

1 paper

NM_000388.4

p.V728F

c.2182G>T

1 paper

NM_000388.4

p.V728A

c.2183T>C

8 papers

NM_000388.4

p.L727Q

c.2180T>A

1 paper

NM_000388.4

p.L727P

c.2180T>C

2 papers

NM_001178065.2

p.F735L

c.2205C>A

NM_000388.4

p.F725L

c.2175C>A

2 papers

NM_001178065.2

p.F735L

c.2205C>G

NM_000388.4

p.F725L

c.2175C>G

2 papers

NM_001178065.2

p.F735L

c.2203T>C

NM_000388.4

p.F725L

c.2173T>C

1 paper

NM_000388.4

p.T732A

c.2194A>G

1 paper

NM_000388.4

p.Q724E

c.2170C>G

19 papers

NM_000388.4

p.L723Q

c.2168T>A

3 papers

NM_000388.4

p.L723R

c.2168T>G

1 paper

NM_000388.4

p.N722K

c.2166C>A