Varaico: Literature-Extracted Genetic Variants

Gene:CTNNBL1

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
1–12 of 216 variants
6 papers
NM_030877.5
p.P301L
c.902C>T
4 papers
NM_030877.5
p.M466V
c.1396A>G
3 papers
NM_030877.5
p.Q61L
c.182A>T
3 papers
NM_030877.5
p.E139E
c.417G>A
3 papers
NM_030877.5
p.L290P
c.869T>C
2 papers
NM_030877.5
p.D2E
c.6C>G
2 papers
NM_030877.5
p.P11P
c.33C>A
2 papers
NM_030877.5
p.Q32R
c.95A>G
2 papers
NM_030877.5
p.K56delFs
c.166delA
2 papers
NM_030877.5
p.E72K
c.214G>A
2 papers
NM_030877.5
p.P76L
c.227C>T
2 papers
NM_030877.5
p.E98A
c.293A>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."