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

2 papers

NM_000388.4

p.E870K

c.2608G>A

Surrounding Variants

1 paper

NM_000388.4

p.E870Q

c.2608G>C

1 paper

NM_000388.4

p.I869M

c.2607C>G

3 papers

NM_000388.4

p.E870E

c.2610G>A

1 paper

NM_000388.4

p.I869V

c.2605A>G

1 paper

NM_000388.4

p.T868A

c.2602A>G

1 paper

NM_000388.4

p.V872M

c.2614G>A

2 papers

NM_000388.4

p.V872A

c.2615T>C

1 paper

NM_000388.4

p.R873C

c.2617C>T

2 papers

NM_000388.4

p.R873H

c.2618G>A

1 paper

NM_000388.4

p.R873P

c.2618G>C

1 paper

NM_000388.4

p.R866H

c.2597G>A

1 paper

NM_000388.4

p.R866G

c.2596C>G