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.Q193H

c.579G>C

Surrounding Variants

1 paper

NM_000388.4

p.Q193H

c.579G>T

1 paper

NM_000388.4

p.A194T

c.580G>A

1 paper

NM_000388.4

p.A194V

c.581C>T

1 paper

NM_000388.4

p.H192Y

c.574C>T

1 paper

NM_000388.4

p.E191A

c.572A>C

1 paper

NM_000388.4

p.E191G

c.572A>G

1 paper

NM_000388.4

p.A196T

c.586G>A

27 papers

NM_000388.4

p.E191K

c.571G>A

1 paper

NM_000388.4

p.E191Q

c.571G>C

6 papers

NM_000388.4

p.D190A

c.569A>C

1 paper

NM_000388.4

p.D190G

c.569A>G

1 paper

NM_000388.4

p.D190fs

c.568_569fs