Varaico: Literature-Extracted Genetic Variants

Gene:SLX4
Variant:p.P245S

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.P245S
c.733C>T
Surrounding Variants
3 papers
NM_032444.4
p.P245L
c.734C>T
1 paper
NM_032444.4
p.K243M
c.728A>T
1 paper
NM_032444.4
p.E247Q
c.739G>C
1 paper
NM_032444.4
p.K243*
c.727A>T
1 paper
NM_032444.4
p.E248*
c.742G>T
3 papers
NM_032444.4
p.E248K
c.742G>A
2 papers
NM_032444.4
p.N240D
c.718A>G
1 paper
NM_032444.4
p.M250T
c.749T>C
8 papers
NM_032444.4
p.A251A
c.753G>A
10 papers
NM_032444.4
p.R237Q
c.710G>A
2 papers
NM_032444.4
p.R237W
c.709C>T
1 paper
NM_032444.4
p.A236A
c.708G>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."