Varaico: Literature-Extracted Genetic Variants

Gene:EME2

EME2

63 papers

RefSeq Summary

EME2 forms a heterodimer with MUS81 (MIM 606591) that functions as an XPF (MIM 278760)-type flap/fork endonuclease in DNA repair (Ciccia et al., 2007 [PubMed 17289582]).[supplied by OMIM, Mar 2008].

Pfam Domains

ERCC4aa 80–250UCSCERCC4 domain
EME1-MUS81_Caa 292–363UCSCEME1/MUS81, C-terminal

Gene Aliases

HGNC Name

essential meiotic structure-specific endonuclease subunit 2

HGNC Alias Symbols

FLJ00151; SLX2B

Papers
RefSeq ID
Protein change
DNA change
1–12 of 76 variants
4 papers
NM_001257370.2
p.R275H
c.824G>A
3 papers
NM_001257370.2
p.G55fs
c.163_164fs
3 papers
NM_001257370.2
p.Q322*
c.964C>T
2 papers
NM_001257370.2
p.D35N
c.103G>A
2 papers
NM_001257370.2
p.M94I
c.282G>A
2 papers
NM_001257370.2
p.M94I
c.282G>C
2 papers
NM_001257370.2
p.M94I
c.282G>T
2 papers
NM_001257370.2
p.Q139*
c.415C>T
2 papers
NM_001257370.2
p.G162R
c.484G>C
2 papers
NM_001257370.2
p.A181_V182delFs
c.541_544del4
2 papers
NM_001257370.2
p.E221Q
c.661G>C
2 papers
NM_001257370.2
p.R319fs
c.955_956fs
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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."