Varaico: Literature-Extracted Genetic Variants

Gene:SLX4
Variant:p.S1249R

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.S1249R
c.3745A>C
Surrounding Variants
1 paper
NM_032444.4
p.S1249R
c.3747C>G
1 paper
NM_032444.4
p.S1249R
c.3747C>A
1 paper
NM_032444.4
p.A1248T
c.3742G>A
1 paper
NM_032444.4
p.E1247K
c.3739G>A
1 paper
NM_032444.4
p.T1251A
c.3751A>G
1 paper
NM_032444.4
p.S1246I
c.3737G>T
1 paper
NM_032444.4
p.D1252Y
c.3754G>T
1 paper
NM_032444.4
p.E1242Q
c.3724G>C
1 paper
NM_032444.4
p.V1257G
c.3770T>G
3 papers
NM_032444.4
p.T1260A
c.3778A>G
2 papers
NM_032444.4
p.P1261L
c.3782C>T
1 paper
NM_032444.4
p.L1222_A1234del13
c.3664_3701del39
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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."