Varaico: Literature-Extracted Genetic Variants

Gene:DUOXA1
Variant:p.L255*

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.L255*
c.764T>A
Surrounding Variants
1 paper
NM_001276266.2
p.L255S
c.764T>C
1 paper
NM_001276266.2
p.T254insFs
c.760_761insA
1 paper
NM_001276266.2
p.F251L
c.753C>A
1 paper
NM_001276266.2
p.F251S
c.752T>C
2 papers
NM_001276266.2
p.P249L
c.746C>T
1 paper
NM_001276266.2
p.H246Q
c.738C>G
1 paper
NM_001276266.2
p.V242A
c.725T>C
1 paper
NM_001276266.2
p.S241T
c.721T>A
1 paper
NM_001276266.2
p.F224Y
c.671T>A
1 paper
NM_001276266.2
p.F223L
c.669C>G
1 paper
NM_001276266.2
p.F223L
c.669C>A
1 paper
NM_001276266.2
p.F223L
c.667T>C
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