Varaico: Literature-Extracted Genetic Variants

Gene:CTNNBL1
Variant:p.M46I

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.M46I
c.138G>C
Surrounding Variants
1 paper
NM_030877.5
p.M46I
c.138G>A
1 paper
NM_030877.5
p.M46I
c.138G>T
1 paper
NM_030877.5
p.T47S
c.140C>G
1 paper
NM_030877.5
p.E45A
c.134A>C
1 paper
NM_030877.5
p.E45*
c.133G>T
1 paper
NM_030877.5
p.V49delFs
c.145delG
1 paper
NM_030877.5
p.E44G
c.131A>G
1 paper
NM_030877.5
p.E50delins
c.149delinsC
1 paper
NM_030877.5
p.D53delFs
c.157delG
1 paper
NM_030877.5
p.R40R
c.120C>A
1 paper
NM_030877.5
p.R40C
c.118C>T
1 paper
NM_030877.5
p.G39fs
c.115_116fs
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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."