Varaico: Literature-Extracted Genetic Variants

Gene:SLX4
Variant:p.L1374M

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.L1374M
c.4120C>A
Surrounding Variants
2 papers
NM_032444.4
p.R1372Q
c.4115G>A
1 paper
NM_032444.4
p.R1372W
c.4114C>T
1 paper
NM_032444.4
p.R1371fs
c.4111_4112fs
1 paper
NM_032444.4
p.R1366C
c.4096C>T
1 paper
NM_032444.4
p.S1382G
c.4144A>G
1 paper
NM_032444.4
p.D1365fs
c.4093_4094fs
2 papers
NM_032444.4
p.D1365fs
c.4093_4094fs
1 paper
NM_032444.4
p.G1364E
c.4091G>A
5 papers
NM_032444.4
p.S1363_G1364delFs
c.4089_4090delCT
1 paper
NM_032444.4
p.S1363*
c.4088C>G
1 paper
NM_032444.4
p.S1363*
c.4088C>A
1 paper
NM_032444.4
p.N1385delFs
c.4153delT
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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."