Varaico: Literature-Extracted Genetic Variants

Gene:DUOXA1
Variant:p.Y330H

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.Y330H
c.988T>C
Surrounding Variants
1 paper
NM_001276266.2
p.Y330F
c.989A>T
1 paper
NM_001276266.2
p.C331Y
c.992G>A
1 paper
NM_001276266.2
p.E333K
c.997G>A
1 paper
NM_001276266.2
p.H335Y
c.1003C>T
1 paper
NM_001276266.2
p.E323_A324insT
c.967_971ins3
4 papers
NM_001276265.1
p.S268G
c.802A>G
NM_001276266.2
p.S313G
c.937A>G
1 paper
NM_001276266.2
p.D312N
c.934G>A
1 paper
NM_001276266.2
p.E299Q
c.895G>C
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.E289K
c.865G>A
1 paper
NM_001276266.2
p.D288N
c.862G>A
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