Varaico: Literature-Extracted Genetic Variants

Gene:DUOXA1
Variant:p.V287L

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.V287L
c.859G>C
Surrounding Variants
1 paper
NM_001276266.2
p.V287L
c.859G>T
1 paper
NM_001276266.2
p.V287M
c.859G>A
1 paper
NM_001276266.2
p.D288N
c.862G>A
1 paper
NM_001276266.2
p.E289K
c.865G>A
2 papers
NM_001276266.2
p.K280N
c.840G>T
2 papers
NM_001276266.2
p.K280N
c.840G>C
1 paper
NM_001276266.2
p.L279L
c.835C>T
3 papers
NM_001276266.2
p.E298D
c.894G>T
1 paper
NM_001276266.2
p.E298D
c.894G>C
1 paper
NM_001276266.2
p.E299Q
c.895G>C
1 paper
NM_001276266.2
p.A271A
c.813C>T
1 paper
NM_001276266.2
p.M268V
c.802A>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."