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

2 papers

NM_000388.4

p.V894I

c.2680G>A

Surrounding Variants

1 paper

NM_000388.4

p.V894L

c.2680G>C

1 paper

NM_000388.4

p.V894F

c.2680G>T

1 paper

NM_000388.4

p.V894G

c.2681T>G

1 paper

NM_000388.4

p.V894delFs

c.2682delC

1 paper

NM_000388.4

p.S895del1

c.2683_2684delTCC

1 paper

NM_000388.4

p.N893D

c.2677A>G

1 paper

NM_000388.4

p.S895A

c.2683T>G

2 papers

NM_000388.4

p.S895fs

c.2683_2684fs

1 paper

NM_000388.4

p.S895C

c.2684C>G

1 paper

NM_000388.4

p.S892C

c.2674A>T

1 paper

NM_000388.4

p.R896C

c.2686C>T

1 paper

NM_000388.4

p.R896fs

c.2686_2687fs