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.Y218H

c.652T>C

Surrounding Variants

29 papers

NM_000388.4

p.Y218S

c.653A>C

12 papers

NM_000388.4

p.Y218C

c.653A>G

1 paper

NM_000388.4

p.Y218F

c.653A>T

1 paper

NM_000388.4

p.D217G

c.650A>G

1 paper

NM_000388.4

p.Y218*

c.654T>A

1 paper

NM_000388.4

p.Y218*

c.654T>G

1 paper

NM_000388.4

p.G219delFs

c.657delG

2 papers

NM_000388.4

p.D217N

c.649G>A

2 papers

NM_000388.4

p.D217Y

c.649G>T

1 paper

NM_000388.4

p.D216E

c.648C>A

1 paper

NM_000388.4

p.D216E

c.648C>G

1 paper

NM_000388.4

p.D216D

c.648C>T