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.N1074D

c.3220A>G

Surrounding Variants

7 papers

NM_000388.4

p.V1075del1

c.3223_3224delGTA

1 paper

NM_000388.4

p.V1075I

c.3223G>A

1 paper

NM_000388.4

p.V1075L

c.3223G>C

1 paper

NM_000388.4

p.V1075L

c.3223G>T

1 paper

NM_000388.4

p.N1077del1

c.3229_3231delAAT

1 paper

NM_000388.4

p.T1070S

c.3209C>G

1 paper

NM_000388.4

p.T1070A

c.3208A>G

1 paper

NM_000388.4

p.T1070S

c.3208A>T

1 paper

NM_000388.4

p.T1070fs

c.3208_3209fs

1 paper

NM_000388.4

p.S1078insFs

c.3233_3234insTT

1 paper

NM_000388.4

p.S1069N

c.3206G>A

1 paper

NM_000388.4

p.S1069G

c.3205A>G