Varaico: Literature-Extracted Genetic Variants

Gene:EME2
Variant:p.R319fs

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.R319fs
c.955_956fs
Surrounding Variants
1 paper
NM_001257370.2
p.R319C
c.955C>T
1 paper
NM_001257370.2
p.R319H
c.956G>A
3 papers
NM_001257370.2
p.Q322*
c.964C>T
1 paper
NM_001257370.2
p.A310fs
c.928_929fs
1 paper
NM_001257370.2
p.A310delFs
c.929delC
1 paper
NM_001257370.2
p.D309N
c.925G>A
1 paper
NM_001257370.2
p.A308fs
c.922_923fs
1 paper
NM_001257370.2
p.R302Q
c.905G>A
1 paper
NM_001257370.2
p.R302W
c.904C>T
1 paper
NM_001257370.2
p.Q299*
c.895C>T
1 paper
NM_001257370.2
p.R295S
c.885G>C
1 paper
NM_001257370.2
p.R295S
c.885G>T
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