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

2 papers

NM_000388.4

p.E127D

c.381G>C

Surrounding Variants

1 paper

NM_000388.4

p.E127D

c.381G>T

30 papers

NM_000388.4

p.E127A

c.380A>C

4 papers

NM_000388.4

p.E127G

c.380A>G

36 papers

NM_000388.4

p.F128L

c.382T>C

8 papers

NM_000388.4

p.E127K

c.379G>A

36 papers

NM_000388.4

p.F128L

c.384C>A

37 papers

NM_000388.4

p.F128L

c.384C>G

3 papers

NM_000388.4

p.D126V

c.377A>T

29 papers

NM_000388.4

p.C129S

c.385T>A

2 papers

NM_000388.4

p.C129R

c.385T>C

1 paper

NM_000388.4

p.C129G

c.385T>G

8 papers

NM_000388.4

p.C129Y

c.386G>A