Varaico: Literature-Extracted Genetic Variants

Gene:DUOXA1
Variant:p.P166A

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.P166A
c.496C>G
Surrounding Variants
1 paper
NM_001276266.2
p.S165R
c.495C>A
1 paper
NM_001276266.2
p.C167Y
c.500G>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.C167W
c.501T>G
1 paper
NM_001276266.2
p.P163L
c.488C>T
1 paper
NM_001276266.2
p.G168G
c.504C>A
1 paper
NM_001276266.2
p.T162I
c.485C>T
1 paper
NM_001276266.2
p.T162N
c.485C>A
2 papers
NM_001276266.2
p.T162A
c.484A>G
1 paper
NM_001276266.2
p.T162P
c.484A>C
1 paper
NM_001276266.2
p.Y170C
c.509A>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."