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

33 papers

NM_000388.4

p.R227L

c.680G>T

Surrounding Variants

29 papers

NM_000388.4

p.R227Q

c.680G>A

2 papers

NM_000388.4

p.R227insFs

c.679_680insAG

1 paper

NM_000388.4

p.R227ins1

c.679_680insAGG

1 paper

NM_000388.4

p.R227G

c.679C>G

17 papers

NM_000388.4

p.R227*

c.679C>T

1 paper

NM_000388.4

p.F226F

c.678C>T

18 papers

NM_000388.4

p.E228K

c.682G>A

13 papers

NM_000388.4

p.E228Q

c.682G>C

1 paper

NM_000388.4

p.E229_A230delFs

c.685_688del4

5 papers

NM_000388.4

p.E228A

c.683A>C

4 papers

NM_000388.4

p.E228G

c.683A>G

2 papers

NM_000388.4

p.K225T

c.674A>C