Varaico: Literature-Extracted Genetic Variants

Gene:DUOXA1
Variant:p.G44R

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.G44R
c.130G>C
Surrounding Variants
1 paper
NM_001276266.2
p.G44A
c.131G>C
1 paper
NM_001276266.2
p.L42V
c.124C>G
1 paper
NM_001276266.2
p.L35_I39del5
c.103_116del15
1 paper
NM_001276266.2
p.T37S
c.109A>T
1 paper
NM_001276266.2
p.T49_R50Splc
c.147+5G>T
1 paper
NM_001276266.2
p.L35P
c.104T>C
1 paper
NM_001276266.2
p.F31L
c.93T>A
1 paper
NM_001276266.2
p.S26R
c.78C>G
1 paper
NM_001276266.2
p.A25T
c.73G>A
1 paper
NM_001276266.2
p.D21E
c.63C>G
1 paper
NM_001276266.2
p.D21E
c.63C>A
1 paper
NM_001276266.2
p.D21A
c.62A>C
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