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.S182insFs

c.544_545insA

Surrounding Variants

2 papers

NM_000388.4

p.F183S

c.548T>C

8 papers

NM_000388.4

p.F180C

c.539T>G

1 paper

NM_000388.4

p.L184H

c.551T>A

1 paper

NM_000388.4

p.Q179R

c.536A>G

1 paper

NM_000388.4

p.R185G

c.553C>G

12 papers

NM_000388.4

p.R185*

c.553C>T

1 paper

NM_000388.4

p.Q179*

c.535C>T

118 papers

NM_000388.4

p.R185Q

c.554G>A

2 papers

NM_000388.4

p.R185P

c.554G>C

1 paper

NM_000388.4

p.N178T

c.533A>C

1 paper

NM_000388.4

p.N178S

c.533A>G

20 papers

NM_000388.4

p.N178D

c.532A>G