Varaico: Literature-Extracted Genetic Variants

Gene:ETHE1
Variant:p.T136A

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
8 papers
NM_014297.5
p.T136A
c.406A>G
Surrounding Variants
3 papers
NM_014297.5
p.T136I
c.407C>T
3 papers
NM_014297.5
p.A131_S132del2
c.391_395del6
1 paper
NM_014297.5
p.S132_P133insFs
c.396_397insAC
1 paper
NM_014297.5
p.C139W
c.417T>G
1 paper
NM_014297.5
p.C139*
c.417T>A
1 paper
NM_014297.5
p.T141delFs
c.423delG
1 paper
NM_014297.5
p.F142fs
c.424_425fs
1 paper
NM_014297.5
p.F142L
c.426C>A
1 paper
NM_014297.5
p.N145I
c.434A>T
1 paper
NM_014297.5
p.F125_A126Splc
c.376-1G>T
3 papers
NM_014297.5
p.H147_A150delFs
c.440_450del11
7 papers
NM_014297.5
p.T152I
c.455C>T
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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."