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.C739S

c.2216G>C

Surrounding Variants

2 papers

NM_000388.4

p.C739Y

c.2216G>A

2 papers

NM_000388.4

p.C739*

c.2217T>A

1 paper

NM_000388.4

p.C739S

c.2215T>A

1 paper

NM_000388.4

p.I738T

c.2213T>C

1 paper

NM_000388.4

p.I738V

c.2212A>G

1 paper

NM_000388.4

p.I741_W742insT

c.2221_2225ins3

1 paper

NM_000388.4

p.I741F

c.2221A>T

1 paper

NM_000388.4

p.V737A

c.2210T>C

1 paper

NM_000388.4

p.V737I

c.2209G>A

4 papers

NM_000388.4

p.W742R

c.2224T>A

4 papers

NM_000388.4

p.W742R

c.2224T>C

1 paper

NM_000388.4

p.L743V

c.2227C>G