Varaico: Literature-Extracted Genetic Variants

Gene:CTNNBL1
Variant:p.L99F

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.L99F
c.297G>C
Surrounding Variants
1 paper
NM_030877.5
p.L99F
c.297G>T
1 paper
NM_030877.5
p.E98insFs
c.293_294insC
2 papers
NM_030877.5
p.E98A
c.293A>C
1 paper
NM_030877.5
p.E98Q
c.292G>C
1 paper
NM_030877.5
p.N96N
c.288C>T
1 paper
NM_030877.5
p.N96S
c.287A>G
1 paper
NM_030877.5
p.K95I
c.284A>T
1 paper
NM_030877.5
p.P107P
c.321A>T
1 paper
NM_030877.5
p.K91insFs
c.271dupA
1 paper
NM_030877.5
p.L87F
c.259C>T
1 paper
NM_030877.5
p.K84K
c.252A>G
1 paper
NM_030877.5
p.V82V
c.246G>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."