Varaico: Literature-Extracted Genetic Variants

Gene:EME2
Variant:p.R275H

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
4 papers
NM_001257370.2
p.R275H
c.824G>A
Surrounding Variants
1 paper
NM_001257370.2
p.R275_G279del5
c.823_836del15
1 paper
NM_001257370.2
p.G279G
c.837C>G
1 paper
NM_001257370.2
p.G279G
c.837C>T
1 paper
NM_001257370.2
p.A267V
c.800C>T
1 paper
NM_001257370.2
p.Q266E
c.796C>G
1 paper
NM_001257370.2
p.G286S
c.856G>A
1 paper
NM_001257370.2
p.E264K
c.790G>A
1 paper
NM_001257370.2
p.R263Q
c.788G>A
1 paper
NM_001257370.2
p.Q261P
c.782A>C
1 paper
NM_001257370.2
p.Q261delFs
c.783delG
1 paper
NM_001257370.2
p.R295S
c.885G>C
1 paper
NM_001257370.2
p.R295S
c.885G>T
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