Varaico: Literature-Extracted Genetic Variants

Gene:ETHE1
Variant:p.Q27*

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
3 papers
NM_014297.5
p.Q27*
c.79C>T
Surrounding Variants
6 papers
NM_014297.5
p.Q27K
c.79C>A
1 paper
NM_014297.5
p.P22delFs
c.66delG
1 paper
NM_014297.5
p.G18E
c.53G>A
1 paper
NM_014297.5
p.Q12R
c.35A>G
3 papers
NM_014297.5
p.Q12*
c.34C>T
1 paper
NM_014297.5
p.V8fs
c.22_23fs
1 paper
NM_014297.5
p.R7insFs
c.19_20dupAG
1 paper
NM_014297.5
p.A2A
c.6G>A
8 papers
NM_014297.5
p.M1I
c.3G>T
5 papers
NM_014297.5
p.M1I
c.3G>C
5 papers
NM_014297.5
p.M1I
c.3G>A
3 papers
NM_014297.5
p.M1K
c.2T>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."