Varaico: Literature-Extracted Genetic Variants

Gene:SLX4
Variant:p.E275*

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.E275*
c.823G>T
Surrounding Variants
1 paper
NM_032444.4
p.E275Q
c.823G>C
2 papers
NM_032444.4
p.E275K
c.823G>A
1 paper
NM_032444.4
p.Q274H
c.822G>T
1 paper
NM_032444.4
p.Q274fs
c.820_821fs
1 paper
NM_032444.4
p.Q274H
c.822G>C
1 paper
NM_032444.4
p.Q274delFs
c.821delT
1 paper
NM_032444.4
p.Q274P
c.821A>C
1 paper
NM_032444.4
p.Q273*
c.817C>T
1 paper
NM_032444.4
p.A277delFs
c.829delC
4 papers
NM_032444.4
p.R278W
c.832C>T
1 paper
NM_032444.4
p.L272L
c.814C>T
7 papers
NM_032444.4
p.R278Q
c.833G>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."