Varaico: Literature-Extracted Genetic Variants

Gene:DUOXA2
Variant:p.Y246*

DUOXA2

135 papers

RefSeq Summary

This gene encodes an endoplasmic reticulum protein that is necessary for proper cellular localization and maturation of functional dual oxidase 2. Mutations in this gene have been associated with thyr...

Pfam Domains

DuoxAaa 10–286UCSCDual oxidase maturation factor

Gene Aliases

HGNC Name

dual oxidase maturation factor 2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
49 papers
NM_207581.4
p.Y246*
c.738C>A
Surrounding Variants
51 papers
NM_207581.4
p.Y246*
c.738C>G
3 papers
NM_207581.4
p.Y246Y
c.738C>T
1 paper
NM_207581.4
p.G247R
c.739G>C
1 paper
NM_207581.4
p.G247A
c.740G>C
1 paper
NM_207581.4
p.A248G
c.743C>G
1 paper
NM_207581.4
p.A249V
c.746C>T
1 paper
NM_207581.4
p.F250V
c.748T>G
1 paper
NM_207581.4
p.W251*
c.752G>A
1 paper
NM_207581.4
p.W251*
c.753G>A
1 paper
NM_207581.4
p.L254insFs
c.760_761insA
1 paper
NM_207581.4
p.L237insFs
c.711dupA
1 paper
NM_207581.4
p.R236C
c.706C>T
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