Varaico: Literature-Extracted Genetic Variants

Gene:DUOXA1
Variant:p.Y173C

DUOXA1

298 papers

RefSeq Summary

Dual oxidases DUOX1 and DUOX2 are NADPH oxidases which are involved in hydrogen peroxide production necessary for thyroid hormonogenesis. They form a heterodimer with specific maturation factors DUOXA...

Pfam Domains

DuoxAaa 66–242UCSCDual oxidase maturation factor

Gene Aliases

HGNC Name

dual oxidase maturation factor 1

HGNC Alias Symbols

FLJ32334; NUMBIP; mol

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001276266.2
p.Y173C
c.518A>G
Surrounding Variants
1 paper
NM_001276266.2
p.Q172H
c.516G>C
1 paper
NM_001276266.2
p.R174S
c.520C>A
1 paper
NM_001276266.2
p.Y170C
c.509A>G
1 paper
NM_001276266.2
p.G168G
c.504C>A
1 paper
NM_001276266.2
p.C167W
c.501T>G
1 paper
NM_001276266.2
p.C167Y
c.500G>A
1 paper
NM_001276266.2
p.T180N
c.539C>A
1 paper
NM_001276266.2
p.P166A
c.496C>G
1 paper
NM_001276266.2
p.S165R
c.495C>A
1 paper
NM_001276266.2
p.R164S
c.492A>T
1 paper
NM_001276266.2
p.R164S
c.492A>C
1 paper
NM_001276266.2
p.M183K
c.548T>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."