Varaico: Literature-Extracted Genetic Variants

Gene:SLX4
Variant:p.L782L

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.L782L
c.2346C>T
Surrounding Variants
1 paper
NM_032444.4
p.L782P
c.2345T>C
1 paper
NM_032444.4
p.S780_E781delFs
c.2340_2343del4
1 paper
NM_032444.4
p.E781fs
c.2341_2342fs
10 papers
NM_032444.4
p.E787K
c.2359G>A
2 papers
NM_032444.4
p.Q788H
c.2364G>T
2 papers
NM_032444.4
p.Q788H
c.2364G>C
1 paper
NM_032444.4
p.D794V
c.2381A>T
3 papers
NM_032444.4
p.S795*
c.2384C>G
3 papers
NM_032444.4
p.S795*
c.2384C>A
1 paper
NM_032444.4
p.G797D
c.2390G>A
1 paper
NM_032444.4
p.W800*
c.2399G>A
1 paper
NM_032444.4
p.W800*
c.2400G>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."