Varaico: Literature-Extracted Genetic Variants

Gene:THRA
Variant:p.D268N

THRA

276 papers

RefSeq Summary

The protein encoded by this gene is a nuclear hormone receptor for triiodothyronine. It is one of the several receptors for thyroid hormone, and has been shown to mediate the biological activities of ...

Pfam Domains

zf-C4aa 51–122UCSCDouble treble clef zinc finger, C4 type
Hormone_recepaa 204–379UCSCLigand-binding domain of nuclear hormone receptor

Gene Aliases

HGNC Name

thyroid hormone receptor alpha

HGNC Previous Symbols

THRA1; THRA2; ERBA1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_199334.5
p.D268N
c.802G>A
Surrounding Variants
1 paper
NM_199334.5
p.P269L
c.806C>T
1 paper
NM_199334.5
p.R266H
c.797G>A
1 paper
NM_199334.5
p.R266L
c.797G>T
1 paper
NM_199334.5
p.S271N
c.812G>A
1 paper
NM_199334.5
p.S271I
c.812G>T
1 paper
NM_199334.5
p.A264V
c.791C>T
1 paper
NM_199334.5
p.A263A
c.789G>T
35 papers
NM_199334.5
p.A263V
c.788C>T
7 papers
NM_199334.5
p.T273A
c.817A>G
21 papers
NM_199334.5
p.A263S
c.787G>T
17 papers
NM_199334.5
p.L274P
c.821T>C
1 paper
NM_199334.5
p.L274R
c.821T>G
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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."