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
4 papers
NM_203395.3
p.R177Splc
c.530+2T>G
Surrounding Variants
1 paper
NM_203395.3
p.W169*
c.507G>A
1 paper
NM_203395.3
p.W169*
c.506G>A
1 paper
NM_203395.3
p.E154Q
c.460G>C
2 papers
NM_203395.3
p.R150*
c.448C>T
1 paper
NM_203395.3
p.H147D
c.439C>G
1 paper
NM_203395.3
p.V138_V139insFs
c.414_415insA
1 paper
NM_203395.3
p.P127L
c.380C>T
1 paper
NM_203395.3
p.G124Splc
c.371-1G>T
1 paper
NM_203395.3
p.G124Splc
c.371-2A>G
2 papers
NM_203395.3
p.R177Splc
c.531-3C>G
1 paper
NM_203395.3
p.W180*
c.539G>A
1 paper
NM_203395.3
p.W180_I181delFs
c.540_543del4
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."