Varaico: Literature-Extracted Genetic Variants

Gene:SLX4
Variant:p.E175_K176delFs

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.E175_K176delFs
c.524_528del5
Surrounding Variants
1 paper
NM_032444.4
p.R178*
c.532A>T
2 papers
NM_032444.4
p.R178I
c.533G>T
1 paper
NM_032444.4
p.R174K
c.521G>A
2 papers
NM_032444.4
p.L172delFs
c.514delG
1 paper
NM_032444.4
p.L172F
c.514C>T
1 paper
NM_032444.4
p.S169L
c.506C>T
1 paper
NM_032444.4
p.Q166K
c.496C>A
1 paper
NM_032444.4
p.T162delFs
c.484_485delGT
1 paper
NM_032444.4
p.T160delFs
c.478delT
1 paper
NM_032444.4
p.N159T
c.476A>C
1 paper
NM_032444.4
p.A157_Q158delFs
c.471_472delGT
1 paper
NM_032444.4
p.Q158*
c.472C>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."