Varaico: Literature-Extracted Genetic Variants

Gene:DUOXA1
Variant:p.K15*

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.K15*
c.43A>T
Surrounding Variants
1 paper
NM_001276266.2
p.K15E
c.43A>G
1 paper
NM_001276266.2
p.P14P
c.42C>T
1 paper
NM_001276266.2
p.A12_G13delFs
c.35_39del5
1 paper
NM_001276266.2
p.T17S
c.49A>T
1 paper
NM_001276266.2
p.T17A
c.49A>G
1 paper
NM_001276266.2
p.Y11_A12Fs
c.32_34delinsAAACFs
1 paper
NM_001276266.2
p.Y11N
c.31T>A
1 paper
NM_001276266.2
p.P19L
c.56C>T
1 paper
NM_001276266.2
p.P9P
c.27C>T
1 paper
NM_001276266.2
p.P9P
c.27C>A
1 paper
NM_001276266.2
p.D21N
c.61G>A
1 paper
NM_001276266.2
p.P9A
c.25C>G
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