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.P55S

c.163C>T

Surrounding Variants

47 papers

NM_000388.4

p.P55L

c.164C>T

1 paper

NM_000388.4

p.E56*

c.166G>T

1 paper

NM_000388.4

p.E56_S57delFs

c.167_170del4

1 paper

NM_000388.4

p.S53S

c.159A>T

1 paper

NM_000388.4

p.E56D

c.168G>C

1 paper

NM_000388.4

p.E56D

c.168G>T

16 papers

NM_000388.4

p.S53P

c.157T>C

1 paper

NM_000388.4

p.K52E

c.154A>G

1 paper

NM_000388.4

p.V58M

c.172G>A

3 papers

NM_000388.4

p.V58L

c.172G>C

3 papers

NM_000388.4

p.V58L

c.172G>T

1 paper

NM_000388.4

p.L51L

c.153C>G