Varaico: Literature-Extracted Genetic Variants

Gene:SLX4
Variant:p.H226H

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
3 papers
NM_032444.4
p.H226H
c.678C>T
Surrounding Variants
1 paper
NM_032444.4
p.H226Y
c.676C>T
1 paper
NM_032444.4
p.R225*
c.673A>T
1 paper
NM_032444.4
p.E222*
c.664G>T
1 paper
NM_032444.4
p.E234G
c.701A>G
2 papers
NM_032444.4
p.A235T
c.703G>A
1 paper
NM_032444.4
p.R218delFs
c.652delT
1 paper
NM_032444.4
p.A236V
c.707C>T
1 paper
NM_032444.4
p.A236A
c.708G>A
2 papers
NM_032444.4
p.R237W
c.709C>T
10 papers
NM_032444.4
p.R237Q
c.710G>A
2 papers
NM_032444.4
p.N240D
c.718A>G
1 paper
NM_032444.4
p.M213_Q214insT
c.637_641ins3
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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."