Varaico: Literature-Extracted Genetic Variants

Gene:CASC3
Variant:p.S21L

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.S21L
c.62C>T
Surrounding Variants
1 paper
NM_007359.5
p.S18C
c.53C>G
1 paper
NM_007359.5
p.G26S
c.76G>A
1 paper
NM_007359.5
p.E14K
c.40G>A
1 paper
NM_007359.5
p.D12Y
c.34G>T
1 paper
NM_007359.5
p.A9A
c.27T>G
1 paper
NM_007359.5
p.G38C
c.112G>T
1 paper
NM_007359.5
p.S47P
c.139T>C
1 paper
NM_007359.5
p.A58fs
c.172_173fs
1 paper
NM_007359.5
p.A58delFs
c.173delC
1 paper
NM_007359.5
p.A69T
c.205G>A
1 paper
NM_007359.5
p.E74D
c.222G>C
1 paper
NM_007359.5
p.G82A
c.245G>C
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