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.L849Q

c.2546T>A

Surrounding Variants

10 papers

NM_000388.4

p.L849P

c.2546T>C

1 paper

NM_000388.4

p.A850T

c.2548G>A

1 paper

NM_000388.4

p.A850E

c.2549C>A

2 papers

NM_000388.4

p.A850G

c.2549C>G

2 papers

NM_000388.4

p.A850V

c.2549C>T

7 papers

NM_000388.4

p.C851S

c.2551T>A

1 paper

NM_000388.4

p.C851fs

c.2551_2552fs

1 paper

NM_000388.4

p.G847D

c.2540G>A

7 papers

NM_000388.4

p.C851S

c.2552G>C

2 papers

NM_000388.4

p.C851F

c.2552G>T

1 paper

NM_000388.4

p.F846S

c.2537T>C

1 paper

NM_000388.4

p.S845N

c.2534G>A