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

4 papers

NM_000388.4

p.E297A

c.890A>C

Surrounding Variants

53 papers

NM_000388.4

p.E297K

c.889G>A

14 papers

NM_000388.4

p.E297D

c.891G>C

1 paper

NM_000388.4

p.E297Q

c.889G>C

14 papers

NM_000388.4

p.E297D

c.891G>T

1 paper

NM_000388.4

p.E297*

c.889G>T

1 paper

NM_000388.4

p.S296R

c.888C>A

1 paper

NM_000388.4

p.S296R

c.888C>G

1 paper

NM_000388.4

p.S296S

c.888C>T

1 paper

NM_000388.4

p.A298T

c.892G>A

1 paper

NM_000388.4

p.A298V

c.893C>T

4 papers

NM_000388.4

p.S296N

c.887G>A

1 paper

NM_000388.4

p.S296R

c.886A>C