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.P1012T

c.3034C>A

Surrounding Variants

2 papers

NM_000388.4

p.P1012A

c.3034C>G

21 papers

NM_000388.4

p.E1011Q

c.3031G>C

NM_001178065.2

p.E1021Q

c.3061G>C

1 paper

NM_000388.4

p.H1010Q

c.3030C>A

1 paper

NM_000388.4

p.H1010Q

c.3030C>G

1 paper

NM_000388.4

p.H1010insFs

c.3030dupC

1 paper

NM_000388.4

p.L1014I

c.3040C>A

1 paper

NM_000388.4

p.H1010fs

c.3028_3029fs

1 paper

NM_000388.4

p.L1014F

c.3040C>T

1 paper

NM_001178065.2

p.P1025delFs

c.3074delC

1 paper

NM_000388.4

p.R1009Q

c.3026G>A

1 paper

NM_000388.4

p.R1009G

c.3025C>G

3 papers

NM_000388.4

p.R1009*

c.3025C>T