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.R62Splc

c.185+2T>C

Surrounding Variants

3 papers

NM_000388.4

p.R62Splc

c.185+1G>C

23 papers

NM_000388.4

p.R62M

c.185G>T

2 papers

NM_000388.4

p.I61N

c.182T>A

2 papers

NM_000388.4

p.C60Y

c.179G>A

4 papers

NM_000388.4

p.C60S

c.179G>C

8 papers

NM_000388.4

p.C60F

c.179G>T

4 papers

NM_000388.4

p.C60S

c.178T>A

2 papers

NM_000388.4

p.C60R

c.178T>C

2 papers

NM_000388.4

p.C60G

c.178T>G

1 paper

NM_000388.4

p.E59D

c.177A>C

2 papers

NM_000388.4

p.E59D

c.177A>T

1 paper

NM_000388.4

p.E59A

c.176A>C