Varaico: Literature-Extracted Genetic Variants

Gene:ETHE1
Variant:p.D196N

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
9 papers
NM_014297.5
p.D196N
c.586G>A
Surrounding Variants
2 papers
NM_014297.5
p.D196H
c.586G>C
1 paper
NM_014297.5
p.H198fs
c.592_593fs
1 paper
NM_014297.5
p.A194T
c.580G>A
5 papers
NM_014297.5
p.H198insFs
c.592_593insC
1 paper
NM_014297.5
p.P193H
c.578C>A
2 papers
NM_014297.5
p.G199Splc
c.595+1G>T
1 paper
NM_014297.5
p.Y192*
c.576C>G
1 paper
NM_014297.5
p.Y192*
c.576C>A
1 paper
NM_014297.5
p.I191insFs
c.572_573ins4
1 paper
NM_014297.5
p.L190R
c.569T>G
1 paper
NM_014297.5
p.C189insFs
c.567dupT
3 papers
NM_014297.5
p.C189delFs
c.566delC
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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."