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.K717N

c.2151G>C

Surrounding Variants

1 paper

NM_000388.4

p.K717N

c.2151G>T

1 paper

NM_000388.4

p.W718R

c.2152T>A

1 paper

NM_000388.4

p.W718R

c.2152T>C

1 paper

NM_000388.4

p.W718G

c.2152T>G

9 papers

NM_000388.4

p.W718*

c.2153G>A

9 papers

NM_000388.4

p.W718*

c.2154G>A

3 papers

NM_000388.4

p.R716H

c.2147G>A

1 paper

NM_000388.4

p.R716C

c.2146C>T

1 paper

NM_000388.4

p.W719L

c.2156G>T

1 paper

NM_000388.4

p.H715Y

c.2143C>T

1 paper

NM_000388.4

p.G720A

c.2159G>C

1 paper

NM_000388.4

p.H715insFs

c.2144_2145ins5