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

1–12 of 134 variants

7 papers

NM_176875.4

p.V125I

c.373G>A

4 papers

NM_176875.4

p.P15P

c.45C>T

4 papers

NM_176875.4

p.L37F

c.109C>T

4 papers

NM_176875.4

p.L94L

c.282C>T

4 papers

NM_176875.4

p.R215H

c.644G>A

4 papers

NM_176875.4

p.D256G

c.767A>G

3 papers

NM_176875.4

p.R43L

c.128G>T

3 papers

NM_176875.4

p.F65I

c.193T>A

3 papers

NM_176875.4

p.V125A

c.374T>C

3 papers

NM_176875.4

p.S131A

c.391T>G

3 papers

NM_176875.4

p.E151A

c.452A>C

3 papers

NM_176875.4

p.T167M

c.500C>T