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.D31_I32insFs

c.93_94insTA

Surrounding Variants

1 paper

NM_000388.4

p.I32insFs

c.94_95insTA

4 papers

NM_000388.4

p.I32V

c.94A>G

2 papers

NM_000388.4

p.D31G

c.92A>G

1 paper

NM_000388.4

p.I32F

c.94A>T

1 paper

NM_000388.4

p.I32_L34delFs

c.95_102del8

2 papers

NM_000388.4

p.D31N

c.91G>A

1 paper

NM_000388.4

p.D31H

c.91G>C

2 papers

NM_000388.4

p.I33T

c.98T>C

1 paper

NM_000388.4

p.I33S

c.98T>G

1 paper

NM_000388.4

p.I33I

c.99C>A

2 papers

NM_000388.4

p.K29N

c.87G>C

2 papers

NM_000388.4

p.K29N

c.87G>T