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.T909delFs

c.2726delC

Surrounding Variants

1 paper

NM_000388.4

p.T909fs

c.2725_2726fs

1 paper

NM_000388.4

p.T909A

c.2725A>G

1 paper

NM_000388.4

p.P910del1

c.2728_2729delCCC

2 papers

NM_000388.4

p.P910fs

c.2728_2729fs

1 paper

NM_000388.4

p.P910A

c.2728C>G

1 paper

NM_000388.4

p.S911F

c.2732C>T

1 paper

NM_000388.4

p.T906M

c.2717C>T

1 paper

NM_000388.4

p.S912C

c.2735C>G

1 paper

NM_000388.4

p.S912F

c.2735C>T

1 paper

NM_000388.4

p.S913F

c.2738C>T

1 paper

NM_000388.4

p.G904A

c.2711G>C

1 paper

NM_000388.4

p.G904fs

c.2710_2711fs