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.L1050F

c.3150G>C

Surrounding Variants

1 paper

NM_000388.4

p.L1050F

c.3150G>T

1 paper

NM_000388.4

p.P1052S

c.3154C>T

2 papers

NM_000388.4

p.E1049*

c.3145G>T

1 paper

NM_000388.4

p.E1048*

c.3142G>T

2 papers

NM_000388.4

p.D1046E

c.3138C>A

2 papers

NM_000388.4

p.D1046E

c.3138C>G

1 paper

NM_000388.4

p.V1055I

c.3163G>A

1 paper

NM_000388.4

p.V1055L

c.3163G>C

1 paper

NM_000388.4

p.V1055L

c.3163G>T

1 paper

NM_000388.4

p.D1046H

c.3136G>C

1 paper

NM_000388.4

p.D1046Y

c.3136G>T

2 papers

NM_000388.4

p.V1056L

c.3166G>C