Varaico: Literature-Extracted Genetic Variants

Gene:CASC3
Variant:p.P645L

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.P645L
c.1934C>T
Surrounding Variants
1 paper
NM_007359.5
p.P647Q
c.1940C>A
1 paper
NM_007359.5
p.T654I
c.1961C>T
1 paper
NM_007359.5
p.N629K
c.1887C>A
1 paper
NM_007359.5
p.N629K
c.1887C>G
2 papers
NM_007359.5
p.L617F
c.1849C>T
1 paper
NM_007359.5
p.Q615*
c.1843C>T
1 paper
NM_007359.5
p.P603L
c.1808C>T
1 paper
NM_007359.5
p.Q589H
c.1767G>C
1 paper
NM_007359.5
p.Q589H
c.1767G>T
1 paper
NM_007359.5
p.G584Splc
c.1751-2A>G
1 paper
NM_007359.5
p.Q655_A656Splc
c.1965+374T>C
1 paper
NM_007359.5
p.P583S
c.1747C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."