Varaico: Literature-Extracted Genetic Variants

Gene:DUOXA1
Variant:p.M1R

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
2 papers
NM_001276266.2
p.M1R
c.2T>G
Surrounding Variants
1 paper
NM_001276266.2
p.M1I
c.3G>T
1 paper
NM_001276266.2
p.M1I
c.3G>C
1 paper
NM_001276266.2
p.M1I
c.3G>A
1 paper
NM_001276266.2
p.A2insFs
c.5_6insG
1 paper
NM_001276266.2
p.L4*
c.11T>A
1 paper
NM_001276266.2
p.G5V
c.14G>T
1 paper
NM_001276266.2
p.G5A
c.14G>C
1 paper
NM_001276266.2
p.G5E
c.14G>A
1 paper
NM_001276266.2
p.H6N
c.16C>A
1 paper
NM_001276266.2
p.T7S
c.19A>T
1 paper
NM_001276266.2
p.T7A
c.19A>G
1 paper
NM_001276266.2
p.T7P
c.19A>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."