Varaico: Literature-Extracted Genetic Variants

Gene:SLX4
Variant:p.P111L

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.P111L
c.332C>T
Surrounding Variants
1 paper
NM_032444.4
p.P112fs
c.334_335fs
1 paper
NM_032444.4
p.P112L
c.335C>T
1 paper
NM_032444.4
p.S113S
c.339T>C
1 paper
NM_032444.4
p.E108Q
c.322G>C
1 paper
NM_032444.4
p.S115I
c.344G>T
2 papers
NM_032444.4
p.S115delFs
c.343delT
1 paper
NM_032444.4
p.R119delFs
c.357delC
1 paper
NM_032444.4
p.T120fs
c.358_359fs
1 paper
NM_032444.4
p.T100S
c.299C>G
2 papers
NM_032444.4
p.T100N
c.299C>A
1 paper
NM_032444.4
p.T100S
c.298A>T
1 paper
NM_032444.4
p.T100A
c.298A>G
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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."