Varaico: Literature-Extracted Genetic Variants

Gene:ETHE1

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
1–12 of 113 variants
24 papers
NM_014297.5
p.R163Q
c.488G>A
23 papers
NM_014297.5
p.R163W
c.487C>T
14 papers
NM_014297.5
p.L185R
c.554T>G
9 papers
NM_014297.5
p.D196N
c.586G>A
8 papers
NM_014297.5
p.M1I
c.3G>T
8 papers
NM_014297.5
p.E44delFs
c.131_132delCT
8 papers
NM_014297.5
p.T136A
c.406A>G
7 papers
NM_014297.5
p.Y38C
c.113A>G
7 papers
NM_014297.5
p.Y74insFs
c.221dupA
7 papers
NM_014297.5
p.T152I
c.455C>T
7 papers
NM_014297.5
p.C161Y
c.482G>A
6 papers
NM_014297.5
p.Q27K
c.79C>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."