Varaico: Literature-Extracted Genetic Variants

Gene:DUOXA1
Variant:p.A66G

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.A66G
c.197C>G
Surrounding Variants
1 paper
NM_001276266.2
p.A66S
c.196G>T
1 paper
NM_001276266.2
p.I67V
c.199A>G
1 paper
NM_001276266.2
p.A65G
c.194C>G
1 paper
NM_001276266.2
p.L68L
c.204G>A
1 paper
NM_001276266.2
p.G64R
c.190G>A
2 papers
NM_001276266.2
p.A69Splc
c.205+1G>A
1 paper
NM_001276266.2
p.I63F
c.187A>T
1 paper
NM_001276266.2
p.I63insFs
c.187_188ins5
1 paper
NM_001276266.2
p.F62S
c.185T>C
1 paper
NM_001276266.2
p.S60N
c.179G>A
1 paper
NM_001276266.2
p.S60R
c.178A>C
1 paper
NM_001276266.2
p.V57M
c.169G>A
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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."