Varaico: Literature-Extracted Genetic Variants

Gene:EME2
Variant:p.G5_P6del1

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.G5_P6del1
c.14_16delGAC
Surrounding Variants
1 paper
NM_001257370.2
p.R3W
c.7C>T
1 paper
NM_001257370.2
p.Q14_R16del3
c.40_47del9
1 paper
NM_001257370.2
p.Q14_R16del0
c.42_47del6
2 papers
NM_001257370.2
p.D35N
c.103G>A
1 paper
NM_001257370.2
p.S36Y
c.107C>A
1 paper
NM_001257370.2
p.A42_A47del6
c.124_140del18
1 paper
NM_001257370.2
p.G43insFs
c.128_129ins4
1 paper
NM_001257370.2
p.S44fs
c.130_131fs
1 paper
NM_001257370.2
p.S44*
c.131C>A
1 paper
NM_001257370.2
p.G55delFs
c.164delG
3 papers
NM_001257370.2
p.G55fs
c.163_164fs
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."