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.N124I

c.371A>T

Surrounding Variants

16 papers

NM_000388.4

p.N124K

c.372C>A

16 papers

NM_000388.4

p.N124K

c.372C>G

1 paper

NM_000388.4

p.L125insFs

c.373_374insA

5 papers

NM_000388.4

p.L125F

c.373C>T

50 papers

NM_000388.4

p.L125P

c.374T>C

10 papers

NM_000388.4

p.L123S

c.368T>C

3 papers

NM_000388.4

p.L125R

c.374T>G

1 paper

NM_000388.4

p.L123M

c.367T>A

1 paper

NM_000388.4

p.D126Y

c.376G>T

3 papers

NM_000388.4

p.D126V

c.377A>T

2 papers

NM_000388.4

p.S122C

c.365C>G

8 papers

NM_000388.4

p.E127K

c.379G>A