Varaico: Literature-Extracted Genetic Variants

Gene:CTNNBIP1
Variant:p.L23Q

CTNNBIP1

27 papers

RefSeq Summary

The protein encoded by this gene binds CTNNB1 and prevents interaction between CTNNB1 and TCF family members. The encoded protein is a negative regulator of the Wnt signaling pathway. Two transcript v...

Pfam Domains

ICATaa 1–79UCSCBeta-catenin-interacting protein ICAT

Gene Aliases

HGNC Name

catenin beta interacting protein 1

HGNC Alias Symbols

ICAT; MGC15093

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020248.3
p.L23Q
c.68T>A
Surrounding Variants
1 paper
NM_020248.3
p.V22E
c.65T>A
1 paper
NM_020248.3
p.V20insFs
c.58_59insG
1 paper
NM_020248.3
p.K19Q
c.55A>C
2 papers
NM_020248.3
p.Y15D
c.43T>G
1 paper
NM_020248.3
p.E13del1
c.37_38delCTC
2 papers
NM_020248.3
p.N32_L33Splc
c.96+1G>A
4 papers
NM_020248.3
p.G8R
c.22G>C
4 papers
NM_020248.3
p.G8R
c.22G>A
1 paper
NM_020248.3
p.G5V
c.14G>T
1 paper
NM_020248.3
p.M1V
c.1A>G
1 paper
NM_020248.3
p.R42G
c.124C>G
1 paper
NM_020248.3
p.Q51E
c.151C>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."