Varaico: Literature-Extracted Genetic Variants

Gene:SLX4
Variant:p.R1021C

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.R1021C
c.3061C>T
Surrounding Variants
2 papers
NM_032444.4
p.P1024A
c.3070C>G
1 paper
NM_032444.4
p.W1025*
c.3074G>A
1 paper
NM_032444.4
p.W1025*
c.3075G>A
1 paper
NM_032444.4
p.P1030L
c.3089C>T
1 paper
NM_032444.4
p.A1010T
c.3028G>A
4 papers
NM_032444.4
p.R1034H
c.3101G>A
1 paper
NM_032444.4
p.Q1007K
c.3019C>A
2 papers
NM_032444.4
p.L1037L
c.3109T>C
1 paper
NM_032444.4
p.G1038E
c.3113G>A
1 paper
NM_032444.4
p.G1043V
c.3128G>T
1 paper
NM_032444.4
p.P997P
c.2991G>A
2 papers
NM_032444.4
p.P997L
c.2990C>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."