Varaico: Literature-Extracted Genetic Variants

Gene:EME1
Variant:p.A479P

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
1 paper
NM_152463.4
p.A479P
c.1435G>C
Surrounding Variants
1 paper
NM_152463.4
p.V469G
c.1406T>G
1 paper
NM_152463.4
p.L489L
c.1465C>T
1 paper
NM_152463.4
p.A466P
c.1396G>C
1 paper
NM_152463.4
p.K449Splc
c.1347-59G>A
1 paper
NM_152463.4
p.E522del1
c.1564_1565delGAA
1 paper
NM_152463.4
p.R533H
c.1598G>A
1 paper
NM_152463.4
p.E536K
c.1606G>A
1 paper
NM_152463.4
p.L549V
c.1645C>G
1 paper
NM_152463.4
p.R552C
c.1654C>T
1 paper
NM_152463.4
p.Q556*
c.1666C>T
1 paper
NM_152463.4
p.F448L
c.1344C>A
1 paper
NM_152463.4
p.F448L
c.1344C>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."