Varaico: Literature-Extracted Genetic Variants

Gene:CCKBR
Variant:p.D252D

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
2 papers
NM_176875.4
p.D252D
c.756C>T
Surrounding Variants
1 paper
NM_176875.4
p.S255_S257del3
c.763_770del9
4 papers
NM_176875.4
p.D256G
c.767A>G
1 paper
NM_176875.4
p.D258V
c.773A>T
1 paper
NM_176875.4
p.R243C
c.727C>T
1 paper
NM_176875.4
p.S242T
c.724T>A
1 paper
NM_176875.4
p.I241T
c.722T>C
1 paper
NM_176875.4
p.Y238C
c.713A>G
1 paper
NM_176875.4
p.G267V
c.800G>T
1 paper
NM_176875.4
p.G268delFs
c.804delG
1 paper
NM_176875.4
p.A237T
c.709G>A
1 paper
NM_176875.4
p.M234T
c.701T>C
1 paper
NM_176875.4
p.V232A
c.695T>C
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