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

20 papers

NM_000388.4

p.N178D

c.532A>G

Surrounding Variants

4 papers

NM_000388.4

p.N178Y

c.532A>T

1 paper

NM_000388.4

p.N178T

c.533A>C

1 paper

NM_000388.4

p.N178S

c.533A>G

1 paper

NM_000388.4

p.K177N

c.531G>C

1 paper

NM_000388.4

p.K177N

c.531G>T

1 paper

NM_000388.4

p.N178_Q179delFs

c.532_535del4

1 paper

NM_000388.4

p.K177T

c.530A>C

1 paper

NM_000388.4

p.K177M

c.530A>T

1 paper

NM_000388.4

p.Q179*

c.535C>T

1 paper

NM_000388.4

p.Q179R

c.536A>G

1 paper

NM_000388.4

p.N176S

c.527A>G

1 paper

NM_000388.4

p.N176delFs

c.528delC