Varaico: Literature-Extracted Genetic Variants

Gene:IYD
Variant:p.R177Splc

IYD

83 papers

RefSeq Summary

This gene encodes an enzyme that catalyzes the oxidative NADPH-dependent deiodination of mono- and diiodotyrosine, which are the halogenated byproducts of thyroid hormone production. The N-terminus of...

Pfam Domains

Nitroreductaseaa 97–267UCSCNitroreductase family

Gene Aliases

HGNC Name

iodotyrosine deiodinase

HGNC Previous Symbol

C6orf71

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_203395.3
p.R177Splc
c.531-3C>G
Surrounding Variants
1 paper
NM_203395.3
p.W180*
c.539G>A
1 paper
NM_203395.3
p.W180_I181delFs
c.540_543del4
1 paper
NM_203395.3
p.W180*
c.540G>A
1 paper
NM_203395.3
p.K182delFs
c.545_546delAA
1 paper
NM_203395.3
p.P189L
c.566C>T
1 paper
NM_203395.3
p.P189delFs
c.567delT
1 paper
NM_203395.3
p.G200A
c.599G>C
2 papers
NM_203395.3
p.A202V
c.605C>T
1 paper
NM_203395.3
p.K208delFs
c.624delA
1 paper
NM_203395.3
p.K207*
c.619A>T
1 paper
NM_203395.3
p.V209fs
c.625_626fs
1 paper
NM_203395.3
p.Y211*
c.633C>A
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