Varaico: Literature-Extracted Genetic Variants

Gene:SLX4
Variant:p.I1438S

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.I1438S
c.4313T>G
Surrounding Variants
1 paper
NM_032444.4
p.S1434L
c.4301C>T
3 papers
NM_032444.4
p.R1445W
c.4333C>T
1 paper
NM_032444.4
p.R1445Q
c.4334G>A
1 paper
NM_032444.4
p.T1446T
c.4338C>T
1 paper
NM_032444.4
p.T1446fs
c.4336_4337fs
1 paper
NM_032444.4
p.W1428*
c.4284G>A
1 paper
NM_032444.4
p.W1428*
c.4283G>A
1 paper
NM_032444.4
p.T1446_G1447delFs
c.4337_4341del5
1 paper
NM_032444.4
p.D1425N
c.4273G>A
1 paper
NM_032444.4
p.S1453insFs
c.4357dupA
1 paper
NM_032444.4
p.T1451_S1452del2
c.4351_4355del6
1 paper
NM_032444.4
p.S1453S
c.4359C>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."