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.I259T

c.776T>C

Surrounding Variants

1 paper

NM_000388.4

p.I259V

c.775A>G

1 paper

NM_000388.4

p.Q260E

c.778C>G

1 paper

NM_000388.4

p.Q260*

c.778C>T

1 paper

NM_000388.4

p.Q260P

c.779A>C

3 papers

NM_000388.4

p.Q260R

c.779A>G

1 paper

NM_000388.4

p.V258E

c.773T>A

2 papers

NM_000388.4

p.V258Fs

c.772_773delinsAFs

1 paper

NM_000388.4

p.N261T

c.782A>C

1 paper

NM_000388.4

p.E257G

c.770A>G

1 paper

NM_000388.4

p.S262C

c.785C>G

1 paper

NM_000388.4

p.V256A

c.767T>C

1 paper

NM_000388.4

p.V256I

c.766G>A