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

24 papers

NM_000388.4

p.A116T

c.346G>A

Surrounding Variants

1 paper

NM_000388.4

p.A116P

c.346G>C

2 papers

NM_000388.4

p.V115F

c.343G>T

1 paper

NM_000388.4

p.Q117R

c.350A>G

1 paper

NM_000388.4

p.F114S

c.341T>C

1 paper

NM_000388.4

p.N118delFs

c.354delC

30 papers

NM_000388.4

p.N118K

c.354C>A

30 papers

NM_000388.4

p.N118K

c.354C>G

2 papers

NM_000388.4

p.K119delFs

c.356delA

1 paper

NM_000388.4

p.K119del1

c.355_356delAAA

1 paper

NM_000388.4

p.K119I

c.356A>T

1 paper

NM_000388.4

p.D121_S122delFs

c.361_364del4

2 papers

NM_000388.4

p.L112V

c.334C>G