Varaico: Literature-Extracted Genetic Variants

Gene:SQOR
Variant:p.E159Q

SQOR

55 papers

RefSeq Summary

The protein encoded by this gene may function in mitochondria to catalyze the conversion of sulfide to persulfides, thereby decreasing toxic concencrations of sulfide. Alternative splicing results in ...

Pfam Domains

Pyr_redox_2aa 44–189UCSCPyridine nucleotide-disulphide oxidoreductase

Gene Aliases

HGNC Name

sulfide quinone oxidoreductase

HGNC Previous Symbol

SQRDL

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_021199.4
p.E159Q
c.475G>C
Surrounding Variants
1 paper
NM_021199.4
p.K177R
c.530A>G
3 papers
NM_021199.4
p.E213K
c.637G>A
1 paper
NM_021199.4
p.F229L
c.685T>C
1 paper
NM_021199.4
p.F229L
c.687C>A
2 papers
NM_021199.4
p.F229L
c.687C>G
1 paper
NM_021199.4
p.E252K
c.754G>A
1 paper
NM_021199.4
p.N258T
c.773A>C
3 papers
NM_021199.4
p.I264T
c.791T>C
3 papers
NM_021199.4
p.L149delFs
c.446delT
2 papers
NM_021199.4
p.L149fs
c.445_446fs
1 paper
NM_021199.4
p.R139*
c.415C>T
1 paper
NM_021199.4
p.P301L
c.902C>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."