Varaico: Literature-Extracted Genetic Variants

Gene:SLX4
Variant:p.E1518K

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.E1518K
c.4552G>A
Surrounding Variants
2 papers
NM_032444.4
p.E1517*
c.4549G>T
1 paper
NM_032444.4
p.G1516R
c.4546G>A
1 paper
NM_032444.4
p.W1514*
c.4542G>A
1 paper
NM_032444.4
p.W1514*
c.4541G>A
1 paper
NM_032444.4
p.V1513delFs
c.4537delC
1 paper
NM_032444.4
p.D1512E
c.4536C>G
1 paper
NM_032444.4
p.D1512E
c.4536C>A
2 papers
NM_032444.4
p.L1510L
c.4530G>T
1 paper
NM_032444.4
p.P1526R
c.4577C>G
2 papers
NM_032444.4
p.S1508L
c.4523C>T
2 papers
NM_032444.4
p.S1508*
c.4523C>A
2 papers
NM_032444.4
p.Q1529*
c.4585C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."