Varaico: Literature-Extracted Genetic Variants

Gene:CTNND2
Variant:p.R227G

CTNND2

251 papers

RefSeq Summary

This gene encodes an adhesive junction associated protein of the armadillo/beta-catenin superfamily and is implicated in brain and eye development and cancer formation. The protein encoded by this gen...

Pfam Domains

Armaa 244–284UCSCArmadillo/beta-catenin-like repeat
Armaa 288–329UCSCArmadillo/beta-catenin-like repeat
Armaa 497–538UCSCArmadillo/beta-catenin-like repeat
Armaa 791–830UCSCArmadillo/beta-catenin-like repeat

Gene Aliases

HGNC Name

catenin delta 2

HGNC Alias Symbols

NPRAP; GT24

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001332.4
p.R227G
c.679C>G
Surrounding Variants
1 paper
NM_001332.4
p.P226_R227del1
c.677_679delGCG
3 papers
NM_001332.4
p.P224L
c.671C>T
1 paper
NM_001332.4
p.P221Q
c.662C>A
1 paper
NM_001332.4
p.F238L
c.712T>C
1 paper
NM_001332.4
p.F238L
c.714C>G
1 paper
NM_001332.4
p.F238L
c.714C>A
1 paper
NM_001332.4
p.A247G
c.740C>G
1 paper
NM_001332.4
p.A251T
c.751G>A
1 paper
NM_001332.4
p.A250_A251del1
c.750_752delGCG
2 papers
NM_001332.4
p.A251del1
c.751_752delCGC
1 paper
NM_001332.4
p.P262P
c.786G>A
1 paper
NM_001332.4
p.P263L
c.788C>T
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