Varaico: Literature-Extracted Genetic Variants

Gene:DUOXA1
Variant:p.Y138*

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
3 papers
NM_001276266.2
p.Y138*
c.414T>G
Surrounding Variants
1 paper
NM_001276266.2
p.Y138_A139insFs
c.414_415insA
3 papers
NM_001276266.2
p.Y138*
c.414T>A
1 paper
NM_001276266.2
p.E140delFs
c.419delT
1 paper
NM_001276266.2
p.L134delFs
c.400_401delAG
1 paper
NM_001276266.2
p.R133C
c.397C>T
1 paper
NM_001276266.2
p.W132S
c.395G>C
2 papers
NM_001276266.2
p.E129D
c.387G>T
2 papers
NM_001276266.2
p.E129D
c.387G>C
1 paper
NM_001276266.2
p.E129V
c.386A>T
1 paper
NM_001276266.2
p.K148E
c.442A>G
1 paper
NM_001276266.2
p.E128E
c.384G>A
1 paper
NM_001276266.2
p.N125S
c.374A>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."