Varaico: Literature-Extracted Genetic Variants

Gene:DIO3
Variant:p.M1V

DIO3

35 papers

RefSeq Summary

The protein encoded by this intronless gene belongs to the iodothyronine deiodinase family. It catalyzes the inactivation of thyroid hormone by inner ring deiodination of the prohormone thyroxine (T4)...

Pfam Domains

T4_deiodinaseaa 38–293UCSCIodothyronine deiodinase

Gene Aliases

HGNC Name

iodothyronine deiodinase 3

HGNC Previous Symbol

TXDI3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001362.4
p.M1V
c.1A>G
Surrounding Variants
1 paper
NM_001362.4
p.G12E
c.35G>A
1 paper
NM_001362.4
p.G19V
c.56G>T
1 paper
NM_001362.4
p.S21L
c.62C>T
1 paper
NM_001362.4
p.L32Q
c.95T>A
1 paper
NM_001362.4
p.S35S
c.105C>T
1 paper
NM_001362.4
p.F52Y
c.155T>A
1 paper
NM_001362.4
p.A56A
c.168C>G
1 paper
NM_001362.4
p.E83K
c.247G>A
1 paper
NM_001362.4
p.N106I
c.317A>T
1 paper
NM_001362.4
p.L111M
c.331C>A
1 paper
NM_001362.4
p.H119R
c.356A>G
1 paper
NM_001362.4
p.Q128*
c.382C>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."