Varaico: Literature-Extracted Genetic Variants

Gene:SLX4
Variant:p.R558W

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.R558W
c.1672C>T
Surrounding Variants
2 papers
NM_032444.4
p.R558Q
c.1673G>A
1 paper
NM_032444.4
p.Q557*
c.1669C>T
1 paper
NM_032444.4
p.V555M
c.1663G>A
1 paper
NM_032444.4
p.L554P
c.1661T>C
1 paper
NM_032444.4
p.Q561_G562Splc
c.1683+1G>A
1 paper
NM_032444.4
p.L554F
c.1660C>T
1 paper
NM_032444.4
p.Q561_G562Splc
c.1683+2T>G
1 paper
NM_032444.4
p.P552R
c.1655C>G
1 paper
NM_032444.4
p.P552S
c.1654C>T
2 papers
NM_032444.4
p.T547M
c.1640C>T
7 papers
NM_032444.4
p.Y546C
c.1637A>G
1 paper
NM_032444.4
p.W540*
c.1620G>A
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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."