Varaico: Literature-Extracted Genetic Variants

Gene:EME1

EME1

92 papers

RefSeq Summary

This gene encodes a protein that complexes with methyl methanesulfonate-sensitive UV-sensitive 81 protein to form an endonuclease complex. The encoded protein interacts with specifc DNA structures inc...

Pfam Domains

ERCC4aa 257–439UCSCERCC4 domain
EME1-MUS81_Caa 481–554UCSCEME1/MUS81, C-terminal

Gene Aliases

HGNC Name

essential meiotic structure-specific endonuclease 1

HGNC Alias Symbols

FLJ31364; MMS4L; SLX2A

Papers
RefSeq ID
Protein change
DNA change
1–12 of 89 variants
9 papers
NM_152463.4
p.I350T
c.1049T>C
8 papers
NM_152463.4
p.E69D
c.207A>C
8 papers
NM_152463.4
p.E69D
c.207A>T
3 papers
NM_152463.4
p.K137ins1
c.409_410insAGC
3 papers
NM_152463.4
p.G212R
c.634G>C
3 papers
NM_152463.4
p.A286P
c.856G>C
3 papers
NM_152463.4
p.D326N
c.976G>A
2 papers
NM_152463.4
p.N189K
c.567T>A
2 papers
NM_152463.4
p.N189K
c.567T>G
2 papers
NM_152463.4
p.G212R
c.634G>A
2 papers
NM_152463.4
p.R317Q
c.950G>A
2 papers
NM_152463.4
p.E409_E410insAGC
c.1225_1229ins9
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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."