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.A772V

c.2315C>T

Surrounding Variants

1 paper

NM_000388.4

p.A772G

c.2315C>G

1 paper

NM_000388.4

p.A772T

c.2314G>A

27 papers

NM_000388.4

p.L773R

c.2318T>G

3 papers

NM_000388.4

p.G774S

c.2320G>A

1 paper

NM_000388.4

p.L770insFs

c.2308_2309ins4

1 paper

NM_000388.4

p.F775insFs

c.2324_2325insT

1 paper

NM_000388.4

p.L770fs

c.2308_2309fs

5 papers

NM_000388.4

p.G768V

c.2303G>T

1 paper

NM_000388.4

p.I777L

c.2329A>C

1 paper

NM_000388.4

p.E767E

c.2301G>A

1 paper

NM_000388.4

p.E767D

c.2301G>C

1 paper

NM_000388.4

p.E767D

c.2301G>T