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.S18P

c.52T>C

Surrounding Variants

1 paper

NM_000388.4

p.S18_A19insC

c.52_56ins3

1 paper

NM_000388.4

p.S18F

c.53C>T

1 paper

NM_000388.4

p.T17I

c.50C>T

1 paper

NM_000388.4

p.A19T

c.55G>A

2 papers

NM_000388.4

p.A19P

c.55G>C

1 paper

NM_000388.4

p.H16R

c.47A>G

1 paper

NM_000388.4

p.H16delins

c.46_47delinsAA

1 paper

NM_000388.4

p.H16D

c.46C>G

1 paper

NM_000388.4

p.Y20H

c.58T>C

1 paper

NM_000388.4

p.Y20_A26insFs

c.59_77dup19

1 paper

NM_000388.4

p.Y20C

c.59A>G

1 paper

NM_000388.4

p.G21_P22delFs

c.61_64del4