Varaico: Literature-Extracted Genetic Variants

Gene:CTNNBL1
Variant:p.E479D

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.E479D
c.1437G>C
Surrounding Variants
1 paper
NM_030877.5
p.E479D
c.1437G>T
1 paper
NM_030877.5
p.E479V
c.1436A>T
1 paper
NM_030877.5
p.E480*
c.1438G>T
1 paper
NM_030877.5
p.E479K
c.1435G>A
1 paper
NM_030877.5
p.E479Q
c.1435G>C
1 paper
NM_030877.5
p.F481_Y482insFs
c.1443_1444insG
1 paper
NM_030877.5
p.L486R
c.1457T>G
2 papers
NM_030877.5
p.F491L
c.1473T>A
4 papers
NM_030877.5
p.M466V
c.1396A>G
1 paper
NM_030877.5
p.H495Q
c.1485C>G
1 paper
NM_030877.5
p.V508G
c.1523T>G
1 paper
NM_030877.5
p.H516Q
c.1548C>A
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