Varaico: Literature-Extracted Genetic Variants

Gene:EME2
Variant:p.E221Q

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
2 papers
NM_001257370.2
p.E221Q
c.661G>C
Surrounding Variants
1 paper
NM_001257370.2
p.A210A
c.630C>T
1 paper
NM_001257370.2
p.A208A
c.624C>G
1 paper
NM_001257370.2
p.E203K
c.607G>A
1 paper
NM_001257370.2
p.R197fs
c.589_590fs
1 paper
NM_001257370.2
p.S196C
c.587C>G
1 paper
NM_001257370.2
p.R192H
c.575G>A
1 paper
NM_001257370.2
p.R192C
c.574C>T
1 paper
NM_001257370.2
p.V250I
c.748G>A
1 paper
NM_001257370.2
p.V250F
c.748G>T
1 paper
NM_001257370.2
p.K252fs
c.754_755fs
1 paper
NM_001257370.2
p.K260Splc
c.779+4C>T
1 paper
NM_001257370.2
p.G184R
c.550G>A
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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."