Varaico: Literature-Extracted Genetic Variants

Gene:IYD
Variant:p.R279C

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
3 papers
NM_203395.3
p.R279C
c.835C>T
Surrounding Variants
1 paper
NM_203395.3
p.D283N
c.847G>A
2 papers
NM_203395.3
p.T273M
c.818C>T
1 paper
NM_203395.3
p.M286fs
c.856_857fs
1 paper
NM_203395.3
p.E271K
c.811G>A
1 paper
NM_203395.3
p.V265M
c.793G>A
1 paper
NM_203395.3
p.P264L
c.791C>T
1 paper
NM_001164694.2
p.R292C
c.874C>T
1 paper
NM_203395.3
p.P254L
c.761C>T
1 paper
NM_203395.3
p.P254insFs
c.760_761insA
1 paper
NM_203395.3
p.R253H
c.758G>A
1 paper
NM_203395.3
p.R253C
c.757C>T
1 paper
NM_203395.3
p.L250F
c.748C>T
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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."