Varaico: Literature-Extracted Genetic Variants

CCKBR

123 papers

RefSeq Summary

This gene encodes a G-protein coupled receptor for gastrin and cholecystokinin (CCK), regulatory peptides of the brain and gastrointestinal tract. This protein is a type B gastrin receptor, which has ...

Pfam Domains

7tm_1aa 48–306UCSC7 transmembrane receptor (rhodopsin family)

7tm_1aa 71–390UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

cholecystokinin B receptor

HGNC Alias Symbols

CCK2R; GASR; CCK-BR; CCK-2R

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_176875.4

p.R43L

c.128G>T

Surrounding Variants

1 paper

NM_176875.4

p.R43S

c.127C>A

1 paper

NM_176875.4

p.P41A

c.121C>G

4 papers

NM_176875.4

p.L37F

c.109C>T

1 paper

NM_176875.4

p.E51A

c.152A>C

1 paper

NM_176875.4

p.E51Splc

c.151+1G>A

1 paper

NM_176875.4

p.S31N

c.92G>A

1 paper

NM_176875.4

p.N30I

c.89A>T

1 paper

NM_176875.4

p.C22C

c.66C>T

1 paper

NM_176875.4

p.C22S

c.65G>C

1 paper

NM_176875.4

p.C22fs

c.64_65fs

1 paper

NM_176875.4

p.L21insFs

c.62dupT

1 paper

NM_176875.4

p.P17P

c.51G>T