Varaico: Literature-Extracted Genetic Variants

Gene:CTNNBL1
Variant:p.E308insFs

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.E308insFs
c.923dupA
Surrounding Variants
1 paper
NM_030877.5
p.E308G
c.923A>G
1 paper
NM_030877.5
p.E305D
c.915G>C
6 papers
NM_030877.5
p.P301L
c.902C>T
2 papers
NM_030877.5
p.P301S
c.901C>T
1 paper
NM_030877.5
p.D315A
c.944A>C
1 paper
NM_030877.5
p.S319A
c.955T>G
1 paper
NM_030877.5
p.L321insFs
c.961_962insC
1 paper
NM_030877.5
p.R327S
c.979C>A
1 paper
NM_030877.5
p.G333C
c.997G>T
1 paper
NM_030877.5
p.G335delFs
c.1003delG
1 paper
NM_030877.5
p.L336I
c.1006C>A
1 paper
NM_030877.5
p.L293_S294insC
c.877_881ins3
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