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.L51I

c.151C>A

Surrounding Variants

2 papers

NM_000388.4

p.L51F

c.151C>T

1 paper

NM_000388.4

p.D50E

c.150T>A

1 paper

NM_000388.4

p.D50E

c.150T>G

2 papers

NM_000388.4

p.D50A

c.149A>C

1 paper

NM_000388.4

p.D50V

c.149A>T

1 paper

NM_000388.4

p.L51L

c.153C>G

1 paper

NM_000388.4

p.K52E

c.154A>G

1 paper

NM_000388.4

p.D50N

c.148G>A

1 paper

NM_000388.4

p.D50Y

c.148G>T

1 paper

NM_000388.4

p.Q49H

c.147A>T

1 paper

NM_000388.4

p.Q49E

c.145C>G

1 paper

NM_000388.4

p.Q49*

c.145C>T