Varaico: Literature-Extracted Genetic Variants

Gene:EME1
Variant:p.I350T

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
Selected Variant
9 papers
NM_152463.4
p.I350T
c.1049T>C
Surrounding Variants
1 paper
NM_152463.4
p.T351K
c.1052C>A
1 paper
NM_152463.4
p.T354I
c.1061C>T
1 paper
NM_152463.4
p.N327N
c.981T>C
3 papers
NM_152463.4
p.D326N
c.976G>A
2 papers
NM_152463.4
p.R317Q
c.950G>A
1 paper
NM_152463.4
p.Q373H
c.1119G>C
1 paper
NM_152463.4
p.Q373H
c.1119G>T
1 paper
NM_152463.4
p.Q386fs
c.1156_1157fs
1 paper
NM_152463.4
p.Q386insFs
c.1156_1157ins7
1 paper
NM_152463.4
p.V403delFs
c.1209delA
2 papers
NM_152463.4
p.E409_E410insAGC
c.1225_1229ins9
1 paper
NM_152463.4
p.E410_A411insAGC
c.1228_1232ins9
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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."