Varaico: Literature-Extracted Genetic Variants

Gene:SLX4
Variant:p.T479A

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.T479A
c.1435A>G
Surrounding Variants
1 paper
NM_032444.4
p.T479I
c.1436C>T
1 paper
NM_032444.4
p.G480R
c.1438G>C
1 paper
NM_032444.4
p.I483T
c.1448T>C
1 paper
NM_032444.4
p.E484K
c.1450G>A
1 paper
NM_032444.4
p.E484fs
c.1450_1451fs
1 paper
NM_032444.4
p.Q474*
c.1420C>T
1 paper
NM_032444.4
p.V473V
c.1419C>T
1 paper
NM_032444.4
p.E484delFs
c.1451_1452delCT
1 paper
NM_032444.4
p.L471_L472del2
c.1411_1415del6
1 paper
NM_032444.4
p.E456_V473delins
c.1367_1417delinsGTTTGTGTGATCAGAAGAGTGACCCTGGGAGAGGCCATCAGCAGGTCCCGG
1 paper
NM_032444.4
p.R486G
c.1456C>G
1 paper
NM_032444.4
p.R486S
c.1456C>A
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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."