Varaico: Literature-Extracted Genetic Variants

Gene:SLX4
Variant:p.L1229delFs

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.L1229delFs
c.3686delA
Surrounding Variants
1 paper
NM_032444.4
p.R1226W
c.3676C>T
1 paper
NM_032444.4
p.R1232_G1233delFs
c.3695_3698del4
1 paper
NM_032444.4
p.E1224V
c.3671A>T
1 paper
NM_032444.4
p.L1222_A1234del13
c.3664_3701del39
1 paper
NM_032444.4
p.P1223L
c.3668C>T
1 paper
NM_032444.4
p.A1221A
c.3663G>A
3 papers
NM_032444.4
p.A1221V
c.3662C>T
1 paper
NM_032444.4
p.A1221Fs
c.3661_3662delinsTFs
1 paper
NM_032444.4
p.G1220R
c.3658G>C
1 paper
NM_032444.4
p.G1220R
c.3658G>A
1 paper
NM_032444.4
p.E1242Q
c.3724G>C
1 paper
NM_032444.4
p.Q1216H
c.3648G>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."