Varaico: Literature-Extracted Genetic Variants

Gene:CTNNBL1
Variant:p.L290P

CTNNBL1

353 papers

RefSeq Summary

The protein encoded by this gene is a component of the pre-mRNA-processing factor 19-cell division cycle 5-like (PRP19-CDC5L) protein complex, which activates pre-mRNA splicing and is an integral part...

Pfam Domains

CTNNBLaa 57–534UCSCCatenin-beta-like, Arm-motif containing nuclear

Gene Aliases

HGNC Name

catenin beta like 1

HGNC Previous Symbol

C20orf33

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_030877.5
p.L290P
c.869T>C
Surrounding Variants
2 papers
NM_030877.5
p.Q292insFs
c.874_875insG
1 paper
NM_030877.5
p.V288A
c.863T>C
1 paper
NM_030877.5
p.L293_S294insC
c.877_881ins3
1 paper
NM_030877.5
p.D287A
c.860A>C
1 paper
NM_030877.5
p.D287N
c.859G>A
1 paper
NM_030877.5
p.I286T
c.857T>C
2 papers
NM_030877.5
p.D284delFs
c.850delG
1 paper
NM_030877.5
p.E282A
c.845A>C
1 paper
NM_030877.5
p.G281E
c.842G>A
1 paper
NM_030877.5
p.E278G
c.833A>G
1 paper
NM_030877.5
p.D274A
c.821A>C
1 paper
NM_030877.5
p.D274N
c.820G>A
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