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.L679P

c.2036T>C

Surrounding Variants

1 paper

NM_000388.4

p.L679_R680insAG

c.2035_2039ins6

1 paper

NM_000388.4

p.L679_R680insAGG

c.2035_2039ins9

12 papers

NM_000388.4

p.R680G

c.2038C>G

37 papers

NM_000388.4

p.R680C

c.2038C>T

NM_001178065.2

p.R690C

c.2068C>T

22 papers

NM_000388.4

p.R680H

c.2039G>A

1 paper

NM_000388.4

p.R678H

c.2033G>A

1 paper

NM_000388.4

p.R678C

c.2032C>T

4 papers

NM_000388.4

p.Q681R

c.2042A>G

2 papers

NM_000388.4

p.C677Y

c.2030G>A

24 papers

NM_000388.4

p.Q681H

c.2043G>C

24 papers

NM_000388.4

p.Q681H

c.2043G>T

2 papers

NM_000388.4

p.T676R

c.2027C>G