Varaico: Literature-Extracted Genetic Variants

Gene:SLX4
Variant:p.R1468C

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.R1468C
c.4402C>T
Surrounding Variants
1 paper
NM_032444.4
p.C1467insFs
c.4399dupT
1 paper
NM_032444.4
p.S1469delFs
c.4405delA
1 paper
NM_032444.4
p.S1469fs
c.4405_4406fs
2 papers
NM_032444.4
p.P1470L
c.4409C>T
1 paper
NM_032444.4
p.S1464_R1465insFs
c.4390_4393dup4
1 paper
NM_032444.4
p.P1470P
c.4410G>A
1 paper
NM_032444.4
p.R1465H
c.4394G>A
1 paper
NM_032444.4
p.R1465C
c.4393C>T
1 paper
NM_032444.4
p.A1461_S1464delFs
c.4381_4391del11
1 paper
NM_032444.4
p.A1461fs
c.4381_4382fs
1 paper
NM_032444.4
p.T1475A
c.4423A>G
1 paper
NM_032444.4
p.E1460K
c.4378G>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."