Varaico: Literature-Extracted Genetic Variants

Gene:SLX4
Variant:p.P521R

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.P521R
c.1562C>G
Surrounding Variants
1 paper
NM_032444.4
p.P523L
c.1568C>T
1 paper
NM_032444.4
p.Q518delFs
c.1552_1553delTG
1 paper
NM_032444.4
p.G517D
c.1550G>A
1 paper
NM_032444.4
p.K526E
c.1576A>G
1 paper
NM_032444.4
p.K526Q
c.1576A>C
1 paper
NM_032444.4
p.A516V
c.1547C>T
1 paper
NM_032444.4
p.R515S
c.1545A>C
1 paper
NM_032444.4
p.K526_S528del0
c.1578_1583del6
1 paper
NM_032444.4
p.E524_S528del5
c.1570_1583del15
3 papers
NM_032444.4
p.W513*
c.1539G>A
3 papers
NM_032444.4
p.W513*
c.1538G>A
1 paper
NM_032444.4
p.L530V
c.1588C>G
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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."