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.I967N

c.2900T>A

Surrounding Variants

1 paper

NM_000388.4

p.I967V

c.2899A>G

1 paper

NM_000388.4

p.I967I

c.2901C>A

1 paper

NM_000388.4

p.I967_F979del13

c.2899_2936del39

1 paper

NM_000388.4

p.F968S

c.2903T>C

1 paper

NM_000388.4

p.V966insFs

c.2897_2898ins4

1 paper

NM_000388.4

p.K963N

c.2889G>C

1 paper

NM_000388.4

p.K963N

c.2889G>T

1 paper

NM_000388.4

p.G971V

c.2912G>T

1 paper

NM_000388.4

p.G971delins

c.2912_2913delinsTT

8 papers

NM_000388.4

p.T972M

c.2915C>T

1 paper

NM_000388.4

p.C962Y

c.2885G>A

1 paper

NM_000388.4

p.V973ins1

c.2918_2919insCAC