Varaico: Literature-Extracted Genetic Variants

Gene:SLX4
Variant:p.L818P

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.L818P
c.2453T>C
Surrounding Variants
1 paper
NM_032444.4
p.L818L
c.2454C>T
3 papers
NM_032444.4
p.E817Q
c.2449G>C
1 paper
NM_032444.4
p.M822V
c.2464A>G
2 papers
NM_032444.4
p.W823*
c.2468G>A
1 paper
NM_032444.4
p.W823C
c.2469G>T
1 paper
NM_032444.4
p.W823C
c.2469G>C
3 papers
NM_032444.4
p.E813K
c.2437G>A
2 papers
NM_032444.4
p.W823*
c.2469G>A
1 paper
NM_032444.4
p.A812A
c.2436C>A
1 paper
NM_032444.4
p.A812V
c.2435C>T
1 paper
NM_032444.4
p.D825A
c.2474A>C
1 paper
NM_032444.4
p.E809Q
c.2425G>C
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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."