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.L650F

c.1948C>T

Surrounding Variants

1 paper

NM_000388.4

p.E649D

c.1947G>C

1 paper

NM_000388.4

p.E649D

c.1947G>T

1 paper

NM_000388.4

p.S651_F656del0

c.1952_1966del15

15 papers

NM_000388.4

p.L650P

c.1949T>C

NM_001178065.2

p.L660P

c.1979T>C

2 papers

NM_000388.4

p.E649K

c.1945G>A

1 paper

NM_000388.4

p.R648Q

c.1943G>A

1 paper

NM_000388.4

p.R648R

c.1942C>A

23 papers

NM_000388.4

p.R648*

c.1942C>T

1 paper

NM_000388.4

p.L655del1

c.1963_1964delCTC

1 paper

NM_000388.4

p.N647S

c.1940A>G

1 paper

NM_000388.4

p.L653V

c.1957C>G

1 paper

NM_000388.4

p.L653F

c.1957C>T