Varaico: Literature-Extracted Genetic Variants

Gene:DUOXA1
Variant:p.K160R

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.K160R
c.479A>G
Surrounding Variants
1 paper
NM_001276266.2
p.K160Q
c.478A>C
2 papers
NM_001276266.2
p.T162A
c.484A>G
1 paper
NM_001276266.2
p.T162P
c.484A>C
1 paper
NM_001276266.2
p.T162I
c.485C>T
1 paper
NM_001276266.2
p.A158G
c.473C>G
1 paper
NM_001276266.2
p.T162N
c.485C>A
1 paper
NM_001276266.2
p.A158S
c.472G>T
1 paper
NM_001276266.2
p.A158T
c.472G>A
1 paper
NM_001276266.2
p.P163L
c.488C>T
1 paper
NM_001276266.2
p.R164S
c.492A>T
1 paper
NM_001276266.2
p.R164S
c.492A>C
1 paper
NM_001276266.2
p.S165R
c.495C>A
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