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

4 papers

NM_000388.4

p.V268del1

c.802_803delGTG

Surrounding Variants

2 papers

NM_000388.4

p.I267M

c.801C>G

1 paper

NM_000388.4

p.V268M

c.802G>A

1 paper

NM_000388.4

p.I267T

c.800T>C

1 paper

NM_000388.4

p.V268_S271delFs

c.802_812del11

1 paper

NM_000388.4

p.V268_V269insFs

c.804_805insG

1 paper

NM_000388.4

p.V268delFs

c.804delG

1 paper

NM_000388.4

p.V266A

c.797T>C

1 paper

NM_000388.4

p.V269A

c.806T>C

1 paper

NM_000388.4

p.K265R

c.794A>G

1 paper

NM_000388.4

p.F270I

c.808T>A

1 paper

NM_000388.4

p.F270L

c.808T>C

1 paper

NM_000388.4

p.F270Y

c.809T>A