Varaico: Literature-Extracted Genetic Variants

Gene:SLX4
Variant:p.E32K

SLX4

607 papers

RefSeq Summary

This gene encodes a protein that functions as an assembly component of multiple structure-specific endonucleases. These endonuclease complexes are required for repair of specific types of DNA lesions ...

Pfam Domains

BTBaa 681–794UCSCBTB/POZ domain
Slx4aa 1753–1810UCSCSlx4 endonuclease

Gene Aliases

HGNC Name

SLX4 structure-specific endonuclease subunit

HGNC Previous Symbol

BTBD12

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032444.4
p.E32K
c.94G>A
Surrounding Variants
1 paper
NM_032444.4
p.S30S
c.90C>T
1 paper
NM_032444.4
p.R29_S30delFs
c.86_89del4
1 paper
NM_032444.4
p.D33G
c.98A>G
2 papers
NM_032444.4
p.Q34*
c.100C>T
1 paper
NM_032444.4
p.R29fs
c.85_86fs
1 paper
NM_032444.4
p.R29P
c.86G>C
1 paper
NM_032444.4
p.Q34Q
c.102G>A
1 paper
NM_032444.4
p.R29H
c.86G>A
2 papers
NM_032444.4
p.R29C
c.85C>T
1 paper
NM_032444.4
p.P35A
c.103C>G
1 paper
NM_032444.4
p.P28P
c.84T>A
1 paper
NM_032444.4
p.D27N
c.79G>A
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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."