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

3 papers

NM_000388.4

p.I816T

c.2447T>C

Surrounding Variants

1 paper

NM_000388.4

p.I816N

c.2447T>A

3 papers

NM_000388.4

p.I816V

c.2446A>G

13 papers

NM_000388.4

p.V817I

c.2449G>A

1 paper

NM_000388.4

p.V817A

c.2450T>C

1 paper

NM_000388.4

p.W818*

c.2453G>A

3 papers

NM_000388.4

p.W818L

c.2453G>T

1 paper

NM_000388.4

p.W818*

c.2454G>A

1 paper

NM_000388.4

p.W818C

c.2454G>C

1 paper

NM_000388.4

p.W818C

c.2454G>T

1 paper

NM_000388.4

p.I819_S820insT

c.2455_2459ins3

2 papers

NM_000388.4

p.I813V

c.2437A>G

2 papers

NM_000388.4

p.F815del1

c.2443_2444delTTC