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.G1019R

c.3055G>A

Surrounding Variants

3 papers

NM_000388.4

p.G1019R

c.3055G>C

1 paper

NM_000388.4

p.C1018S

c.3053G>C

2 papers

NM_000388.4

p.E1020Q

c.3058G>C

1 paper

NM_000388.4

p.C1018S

c.3052T>A

1 paper

NM_000388.4

p.Q1017P

c.3050A>C

1 paper

NM_000388.4

p.T1021K

c.3062C>A

1 paper

NM_000388.4

p.T1021R

c.3062C>G

1 paper

NM_000388.4

p.T1021M

c.3062C>T

1 paper

NM_000388.4

p.L1016Q

c.3047T>A

1 paper

NM_000388.4

p.L1023_E1029del7

c.3067_3086del21

1 paper

NM_001178065.2

p.P1025fs

c.3073_3074fs

1 paper

NM_001178065.2

p.P1025delFs

c.3074delC