Varaico: Literature-Extracted Genetic Variants

Gene:EME2
Variant:p.R119P

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
Selected Variant
1 paper
NM_001257370.2
p.R119P
c.356G>C
Surrounding Variants
1 paper
NM_001257370.2
p.A120G
c.359C>G
1 paper
NM_001257370.2
p.R113H
c.338G>A
1 paper
NM_001257370.2
p.S128_L129ins4
c.382_386ins12
1 paper
NM_001257370.2
p.Q109H
c.327G>C
1 paper
NM_001257370.2
p.C102R
c.304T>C
1 paper
NM_001257370.2
p.E95*
c.283G>T
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
1 paper
NM_001257370.2
p.V92_L93delFs
c.275_279del5
1 paper
NM_001257370.2
p.C79F
c.236G>T
1 paper
NM_001257370.2
p.L76L
c.228C>T
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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."