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.S247P

c.739T>C

Surrounding Variants

1 paper

NM_000388.4

p.S247A

c.739T>G

2 papers

NM_000388.4

p.S247insFs

c.741dupT

4 papers

NM_000388.4

p.S247F

c.740C>T

1 paper

NM_000388.4

p.Y246Y

c.738C>T

2 papers

NM_000388.4

p.Y246_H254del0

c.738_761del24

32 papers

NM_000388.4

p.Q245R

c.734A>G

1 paper

NM_000388.4

p.E249_I252del4

c.745_755del12

1 paper

NM_000388.4

p.E249K

c.745G>A

1 paper

NM_000388.4

p.S244S

c.732C>T

1 paper

NM_000388.4

p.S244Y

c.731C>A

17 papers

NM_000388.4

p.E250K

c.748G>A

1 paper

NM_000388.4

p.E250A

c.749A>C