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.R25Q

c.74G>A

Surrounding Variants

9 papers

NM_000388.4

p.R25*

c.73C>T

1 paper

NM_000388.4

p.A26S

c.76G>T

1 paper

NM_000388.4

p.A26G

c.77C>G

6 papers

NM_000388.4

p.A26A

c.78C>G

2 papers

NM_000388.4

p.D23E

c.69C>A

7 papers

NM_000388.4

p.Q27E

c.79C>G

2 papers

NM_000388.4

p.D23E

c.69C>G

1 paper

NM_000388.4

p.Q27P

c.80A>C

24 papers

NM_000388.4

p.Q27R

c.80A>G

1 paper

NM_000388.4

p.K28_K29delFs

c.82_85del4

1 paper

NM_000388.4

p.Q24_R25delFs

c.70_73del4

1 paper

NM_000388.4

p.D23H

c.67G>C