Varaico: Literature-Extracted Genetic Variants

Gene:CASC3
Variant:p.D171E

CASC3

93 papers

RefSeq Summary

The product of this gene is a core component of the exon junction complex (EJC), a protein complex that is deposited on spliced mRNAs at exon-exon junctions and functions in nonsense-mediated mRNA dec...

Pfam Domains

Btzaa 139–249UCSCCASC3/Barentsz eIF4AIII binding

Gene Aliases

HGNC Name

CASC3 exon junction complex subunit

HGNC Alias Symbols

MLN51; BTZ

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_007359.5
p.D171E
c.513T>G
Surrounding Variants
1 paper
NM_007359.5
p.K161N
c.483A>C
1 paper
NM_007359.5
p.K161N
c.483A>T
1 paper
NM_007359.5
p.P183A
c.547C>G
1 paper
NM_007359.5
p.L187L
c.561C>T
1 paper
NM_007359.5
p.S148N
c.443G>A
1 paper
NM_007359.5
p.S148_G151delFs
c.444_451del8
1 paper
NM_007359.5
p.V113L
c.337G>C
1 paper
NM_007359.5
p.V113L
c.337G>T
1 paper
NM_007359.5
p.G103D
c.308G>A
1 paper
NM_007359.5
p.S232F
c.695C>T
1 paper
NM_007359.5
p.A238V
c.713C>T
2 papers
NM_007359.5
p.D243N
c.727G>A
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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."