Varaico: Literature-Extracted Genetic Variants

Gene:ETHE1
Variant:p.R163W

ETHE1

125 papers

RefSeq Summary

This gene encodes a member of the metallo beta-lactamase family of iron-containing proteins involved in the mitochondrial sulfide oxidation pathway. The encoded protein catalyzes the oxidation of a pe...

Pfam Domains

Lactamase_Baa 33–195UCSCMetallo-beta-lactamase superfamily

Gene Aliases

HGNC Name

ETHE1 persulfide dioxygenase

HGNC Alias Symbols

YF13H12; HSCO

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
23 papers
NM_014297.5
p.R163W
c.487C>T
Surrounding Variants
5 papers
NM_014297.5
p.R163G
c.487C>G
25 papers
NM_001320868.2
p.R40Q
c.119G>A
NM_014297.5
p.R163Q
c.488G>A
1 paper
NM_014297.5
p.G162W
c.484G>T
5 papers
NM_014297.5
p.T164K
c.491C>A
7 papers
NM_014297.5
p.C161Y
c.482G>A
2 papers
NM_014297.5
p.D165H
c.493G>C
3 papers
NM_014297.5
p.D165G
c.494A>G
1 paper
NM_014297.5
p.F166S
c.497T>C
3 papers
NM_001320868.2
p.R36H
c.107G>A
NM_014297.5
p.R159H
c.476G>A
2 papers
NM_014297.5
p.R159C
c.475C>T
6 papers
NM_014297.5
p.G169Splc
c.505+1G>T
1 paper
NM_014297.5
p.G169Splc
c.505+1G>C
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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."