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.T1026T

c.3078C>T

Surrounding Variants

1 paper

NM_000388.4

p.V1027I

c.3079G>A

4 papers

NM_000388.4

p.Q1028*

c.3082C>T

1 paper

NM_000388.4

p.Q1028R

c.3083A>G

1 paper

NM_000388.4

p.Q1028H

c.3084G>C

1 paper

NM_000388.4

p.Q1028H

c.3084G>T

1 paper

NM_000388.4

p.E1029G

c.3086A>G

1 paper

NM_000388.4

p.T1030R

c.3089C>G

1 paper

NM_000388.4

p.L1023_E1029del7

c.3067_3086del21

2 papers

NM_001178065.2

p.G1041S

c.3121G>A

NM_000388.4

p.G1031S

c.3091G>A

1 paper

NM_000388.4

p.G1031D

c.3092G>A

1 paper

NM_000388.4

p.T1021K

c.3062C>A

1 paper

NM_000388.4

p.T1021R

c.3062C>G