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.I187N

c.560T>A

Surrounding Variants

1 paper

NM_000388.4

p.P188T

c.562C>A

1 paper

NM_000388.4

p.P188S

c.562C>T

2 papers

NM_000388.4

p.T186N

c.557C>A

1 paper

NM_000388.4

p.T186S

c.557C>G

1 paper

NM_000388.4

p.T186I

c.557C>T

1 paper

NM_000388.4

p.T186S

c.556A>T

1 paper

NM_000388.4

p.N189H

c.565A>C

2 papers

NM_000388.4

p.N189D

c.565A>G

1 paper

NM_000388.4

p.N189T

c.566A>C

2 papers

NM_000388.4

p.N189S

c.566A>G

1 paper

NM_000388.4

p.N189I

c.566A>T

118 papers

NM_000388.4

p.R185Q

c.554G>A