Varaico: Literature-Extracted Genetic Variants

Gene:CCKBR
Variant:p.V125A

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.V125A
c.374T>C
Surrounding Variants
1 paper
NM_176875.4
p.V125D
c.374T>A
7 papers
NM_176875.4
p.V125I
c.373G>A
1 paper
NM_176875.4
p.T124A
c.370A>G
1 paper
NM_176875.4
p.A129T
c.385G>A
1 paper
NM_176875.4
p.F120L
c.360C>A
2 papers
NM_176875.4
p.F120L
c.360C>G
1 paper
NM_176875.4
p.F120Y
c.359T>A
1 paper
NM_176875.4
p.F120L
c.358T>C
1 paper
NM_176875.4
p.S131T
c.391T>A
3 papers
NM_176875.4
p.S131A
c.391T>G
1 paper
NM_176875.4
p.T119A
c.355A>G
1 paper
NM_176875.4
p.G135A
c.404G>C
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