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.W8L

c.23G>T

Surrounding Variants

1 paper

NM_000388.4

p.C7W

c.21C>G

1 paper

NM_000388.4

p.V9I

c.25G>A

1 paper

NM_000388.4

p.V9F

c.25G>T

1 paper

NM_000388.4

p.C7Y

c.20G>A

1 paper

NM_000388.4

p.V9delFs

c.27delC

1 paper

NM_000388.4

p.C7insFs

c.19_20insG

2 papers

NM_000388.4

p.C7fs

c.19_20fs

1 paper

NM_000388.4

p.C6*

c.18C>A

1 paper

NM_000388.4

p.L10I

c.28C>A

1 paper

NM_000388.4

p.C6C

c.18C>T

1 paper

NM_000388.4

p.C6S

c.17G>C

1 paper

NM_000388.4

p.C6_C7insFs

c.18_19insC