Varaico: Literature-Extracted Genetic Variants

Gene:EME1
Variant:p.N189K

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
2 papers
NM_152463.4
p.N189K
c.567T>G
Surrounding Variants
2 papers
NM_152463.4
p.N189K
c.567T>A
1 paper
NM_152463.4
p.L183L
c.549G>A
1 paper
NM_152463.4
p.S181R
c.543C>A
1 paper
NM_152463.4
p.S181R
c.543C>G
1 paper
NM_152463.4
p.S181R
c.541A>C
1 paper
NM_152463.4
p.S180N
c.539G>A
1 paper
NM_152463.4
p.P201L
c.602C>T
1 paper
NM_152463.4
p.P201P
c.603G>A
1 paper
NM_152463.4
p.P177H
c.530C>A
1 paper
NM_152463.4
p.P177R
c.530C>G
1 paper
NM_152463.4
p.C176F
c.527G>T
1 paper
NM_152463.4
p.S174delFs
c.522delT
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