Varaico: Literature-Extracted Genetic Variants

Gene:ETHE1
Variant:p.Q63*

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.Q63*
c.187C>T
Surrounding Variants
1 paper
NM_014297.5
p.A62T
c.184G>A
1 paper
NM_014297.5
p.K66R
c.197A>G
1 paper
NM_014297.5
p.P59H
c.176C>A
1 paper
NM_014297.5
p.L68P
c.203T>C
1 paper
NM_014297.5
p.L70L
c.208C>T
6 papers
NM_014297.5
p.L55P
c.164T>C
1 paper
NM_014297.5
p.R71Q
c.212G>A
1 paper
NM_014297.5
p.D52D
c.156C>T
7 papers
NM_014297.5
p.Y74insFs
c.221dupA
5 papers
NM_014297.5
p.Y74*
c.222T>G
5 papers
NM_014297.5
p.Y74*
c.222T>A
1 paper
NM_014297.5
p.V76Splc
c.226+2T>G
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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."