Varaico: Literature-Extracted Genetic Variants

Gene:SLX4
Variant:p.A1750S

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
2 papers
NM_032444.4
p.A1750S
c.5248G>T
Surrounding Variants
3 papers
NM_032444.4
p.A1750V
c.5249C>T
1 paper
NM_032444.4
p.A1750delFs
c.5248delC
1 paper
NM_032444.4
p.A1750fs
c.5248_5249fs
3 papers
NM_032444.4
p.Q1748*
c.5242C>T
1 paper
NM_032444.4
p.A1746P
c.5236G>C
2 papers
NM_032444.4
p.E1754K
c.5260G>A
1 paper
NM_032444.4
p.A1745delFs
c.5233_5234delGC
1 paper
NM_032444.4
p.Q1744fs
c.5230_5231fs
1 paper
NM_032444.4
p.A1755V
c.5264C>T
2 papers
NM_032444.4
p.S1743_Q1744insFs
c.5229_5230insG
1 paper
NM_032444.4
p.L1756insFs
c.5266dupC
1 paper
NM_032444.4
p.S1743L
c.5228C>T
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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."