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.Q164K

c.490C>A

Surrounding Variants

5 papers

NM_000388.4

p.Q164*

c.490C>T

2 papers

NM_000388.4

p.Q164R

c.491A>G

6 papers

NM_000388.4

p.P163R

c.488C>G

1 paper

NM_000388.4

p.P163L

c.488C>T

1 paper

NM_000388.4

p.P163S

c.487C>T

1 paper

NM_000388.4

p.Q164_V165Splc

c.492+1G>A

1 paper

NM_000388.4

p.Q164_V165Splc

c.492+2T>C

1 paper

NM_000388.4

p.I162L

c.484A>C

1 paper

NM_000388.4

p.I162V

c.484A>G

1 paper

NM_000388.4

p.Y161*

c.483C>A

1 paper

NM_000388.4

p.Y161*

c.483C>G

1 paper

NM_000388.4

p.Y161Fs

c.483delinsGAFs