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.L703L

c.2109C>T

Surrounding Variants

1 paper

NM_000388.4

p.L704insFs

c.2111_2112insT

1 paper

NM_000388.4

p.V705del1

c.2113_2115delGTG

1 paper

NM_000388.4

p.L703P

c.2108T>C

1 paper

NM_000388.4

p.L704P

c.2111T>C

1 paper

NM_000388.4

p.V702A

c.2105T>C

1 paper

NM_000388.4

p.V702I

c.2104G>A

1 paper

NM_000388.4

p.V705E

c.2114T>A

3 papers

NM_000388.4

p.V705A

c.2114T>C

1 paper

NM_000388.4

p.V705insFs

c.2114_2115ins5

1 paper

NM_000388.4

p.R701H

c.2102G>A

3 papers

NM_000388.4

p.R701P

c.2102G>C

1 paper

NM_000388.4

p.R701L

c.2102G>T