Varaico: Literature-Extracted Genetic Variants

Gene:SLX4
Variant:p.M1530I

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
2 papers
NM_032444.4
p.M1530I
c.4590G>C
Surrounding Variants
2 papers
NM_032444.4
p.M1530I
c.4590G>T
2 papers
NM_032444.4
p.M1530I
c.4590G>A
2 papers
NM_032444.4
p.Q1529*
c.4585C>T
1 paper
NM_032444.4
p.A1533P
c.4597G>C
1 paper
NM_032444.4
p.A1533T
c.4597G>A
1 paper
NM_032444.4
p.G1534S
c.4600G>A
1 paper
NM_032444.4
p.P1526R
c.4577C>G
1 paper
NM_032444.4
p.Q1537*
c.4609C>T
1 paper
NM_032444.4
p.P1539S
c.4615C>T
2 papers
NM_032444.4
p.E1540K
c.4618G>A
1 paper
NM_032444.4
p.E1518K
c.4552G>A
1 paper
NM_032444.4
p.E1543D
c.4629G>T
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