Varaico: Literature-Extracted Genetic Variants

Gene:SLX4
Variant:p.E179G

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.E179G
c.536A>G
Surrounding Variants
1 paper
NM_032444.4
p.N183delFs
c.548delT
1 paper
NM_032444.4
p.S184S
c.552C>T
1 paper
NM_032444.4
p.D185N
c.553G>A
2 papers
NM_032444.4
p.D185D
c.555C>T
1 paper
NM_032444.4
p.Q187*
c.559C>T
1 paper
NM_032444.4
p.P189A
c.565C>G
1 paper
NM_032444.4
p.P189T
c.565C>A
1 paper
NM_032444.4
p.P190fs
c.568_569fs
1 paper
NM_032444.4
p.P190S
c.568C>T
1 paper
NM_032444.4
p.S191T
c.571T>A
1 paper
NM_032444.4
p.P190del1
c.568_570delAGG
1 paper
NM_032444.4
p.L193delFs
c.577_578delAA
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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."