Varaico: Literature-Extracted Genetic Variants

Gene:SLX4
Variant:p.H1290fs

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.H1290fs
c.3868_3869fs
Surrounding Variants
6 papers
NM_032444.4
p.H1290N
c.3868C>A
1 paper
NM_032444.4
p.H1290insFs
c.3868dupC
1 paper
NM_032444.4
p.Q1289R
c.3866A>G
2 papers
NM_032444.4
p.T1291M
c.3872C>T
1 paper
NM_032444.4
p.T1288S
c.3863C>G
1 paper
NM_032444.4
p.T1288S
c.3862A>T
3 papers
NM_032444.4
p.A1286V
c.3857C>T
1 paper
NM_032444.4
p.S1295fs
c.3883_3884fs
1 paper
NM_032444.4
p.V1284M
c.3850G>A
1 paper
NM_032444.4
p.A1283V
c.3848C>T
1 paper
NM_032444.4
p.G1297E
c.3890G>A
2 papers
NM_032444.4
p.R1299fs
c.3895_3896fs
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