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.A168V

c.503C>T

Surrounding Variants

1 paper

NM_000388.4

p.S169P

c.505T>C

6 papers

NM_000388.4

p.S169A

c.505T>G

1 paper

NM_000388.4

p.S169F

c.506C>T

1 paper

NM_000388.4

p.Y167N

c.499T>A

13 papers

NM_000388.4

p.S170T

c.508T>A

1 paper

NM_000388.4

p.S166R

c.498T>A

1 paper

NM_000388.4

p.S170P

c.508T>C

18 papers

NM_000388.4

p.S170A

c.508T>G

1 paper

NM_000388.4

p.S166R

c.498T>G

1 paper

NM_000388.4

p.S166N

c.497G>A

1 paper

NM_000388.4

p.S166I

c.497G>T

1 paper

NM_000388.4

p.S166R

c.496A>C