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.A746V

c.2237C>T

Surrounding Variants

2 papers

NM_000388.4

p.A746T

c.2236G>A

4 papers

NM_000388.4

p.P747fs

c.2239_2240fs

6 papers

NM_000388.4

p.P747S

c.2239C>T

1 paper

NM_000388.4

p.P748S

c.2242C>T

1 paper

NM_000388.4

p.Y744S

c.2231A>C

26 papers

NM_000388.4

p.P748R

c.2243C>G

2 papers

NM_000388.4

p.P748L

c.2243C>T

7 papers

NM_000388.4

p.P748P

c.2244G>C

NM_001178065.2

p.P758P

c.2274G>C

1 paper

NM_000388.4

p.L743V

c.2227C>G

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.Y751D

c.2251T>G