Varaico: Literature-Extracted Genetic Variants

Gene:CTNNBL1
Variant:p.D274A

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
1 paper
NM_030877.5
p.D274A
c.821A>C
Surrounding Variants
1 paper
NM_030877.5
p.D274N
c.820G>A
2 papers
NM_030877.5
p.D274delFs
c.821delA
1 paper
NM_030877.5
p.N273S
c.818A>G
1 paper
NM_030877.5
p.L269_L270delins
c.807_808delinsAT
1 paper
NM_030877.5
p.I268V
c.802A>G
1 paper
NM_030877.5
p.E264A
c.791A>C
1 paper
NM_030877.5
p.K259R
c.776A>G
1 paper
NM_030877.5
p.A257A
c.771C>G
1 paper
NM_030877.5
p.M253R
c.758T>G
1 paper
NM_030877.5
p.E278G
c.833A>G
1 paper
NM_030877.5
p.G281E
c.842G>A
1 paper
NM_030877.5
p.E282A
c.845A>C
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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."