Varaico: Literature-Extracted Genetic Variants

Gene:DUOXA1

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
1–12 of 188 variants
5 papers
NM_001276266.2
p.T213M
c.638C>T
3 papers
NM_001276266.2
p.Y138*
c.414T>G
3 papers
NM_001276266.2
p.Y138*
c.414T>A
3 papers
NM_001276266.2
p.E298D
c.894G>T
3 papers
NM_001276266.2
p.S313G
c.937A>G
2 papers
NM_001276266.2
p.M1R
c.2T>G
2 papers
NM_001276266.2
p.P9T
c.25C>A
2 papers
NM_001276266.2
p.R56W
c.166C>T
2 papers
NM_001276266.2
p.R56Q
c.167G>A
2 papers
NM_001276266.2
p.A69Splc
c.205+1G>A
2 papers
NM_001276266.2
p.E129D
c.387G>T
2 papers
NM_001276266.2
p.E129D
c.387G>C
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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."