Varaico: Literature-Extracted Genetic Variants

Gene:SLX4
Variant:p.A1812A

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.A1812A
c.5436C>T
Surrounding Variants
3 papers
NM_032444.4
p.R1814C
c.5440C>T
1 paper
NM_032444.4
p.R1814delFs
c.5440delG
1 paper
NM_032444.4
p.R1814fs
c.5440_5441fs
1 paper
NM_032444.4
p.C1805Y
c.5414G>A
2 papers
NM_032444.4
p.C1805R
c.5413T>C
1 paper
NM_032444.4
p.R1795_H1804del10
c.5383_5411del30
1 paper
NM_032444.4
p.R1823Q
c.5468G>A
1 paper
NM_032444.4
p.D1802N
c.5404G>A
1 paper
NM_032444.4
p.R1826Q
c.5477G>A
1 paper
NM_032444.4
p.G1827fs
c.5479_5480fs
1 paper
NM_032444.4
p.G1827delFs
c.5480delC
2 papers
NM_032444.4
p.L1797L
c.5389C>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."