Varaico: Literature-Extracted Genetic Variants

Gene:SLX4
Variant:p.P1388T

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.P1388T
c.4162C>A
Surrounding Variants
1 paper
NM_032444.4
p.A1389E
c.4166C>A
1 paper
NM_032444.4
p.Q1386*
c.4156C>T
1 paper
NM_032444.4
p.N1385delFs
c.4153delT
2 papers
NM_032444.4
p.V1393L
c.4177G>T
2 papers
NM_032444.4
p.V1393L
c.4177G>C
1 paper
NM_032444.4
p.V1393A
c.4178T>C
1 paper
NM_032444.4
p.S1382G
c.4144A>G
1 paper
NM_032444.4
p.D1399_D1400insC
c.4195_4199ins3
1 paper
NM_032444.4
p.Q1402*
c.4204C>T
1 paper
NM_032444.4
p.L1374M
c.4120C>A
1 paper
NM_032444.4
p.D1400_E1401del2
c.4198_4202del6
1 paper
NM_032444.4
p.E1403*
c.4207G>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."