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

3 papers

NM_000388.4

p.V58L

c.172G>T

Surrounding Variants

1 paper

NM_000388.4

p.V58M

c.172G>A

3 papers

NM_000388.4

p.V58L

c.172G>C

1 paper

NM_000388.4

p.V58E

c.173T>A

1 paper

NM_000388.4

p.V58V

c.174G>C

1 paper

NM_000388.4

p.E59K

c.175G>A

1 paper

NM_000388.4

p.E59A

c.176A>C

1 paper

NM_000388.4

p.E59G

c.176A>G

1 paper

NM_000388.4

p.E56D

c.168G>C

1 paper

NM_000388.4

p.E56D

c.168G>T

1 paper

NM_000388.4

p.E59D

c.177A>C

2 papers

NM_000388.4

p.E59D

c.177A>T

1 paper

NM_000388.4

p.E56*

c.166G>T