Varaico: Literature-Extracted Genetic Variants

Gene:THRA
Variant:p.Q320E

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.Q320E
c.958C>G
Surrounding Variants
1 paper
NM_199334.5
p.Q320K
c.958C>A
1 paper
NM_199334.5
p.Q320*
c.958C>T
1 paper
NM_199334.5
p.L318Q
c.953T>A
1 paper
NM_199334.5
p.V322L
c.964G>C
1 paper
NM_199334.5
p.A317D
c.950C>A
4 papers
NM_199334.5
p.A317V
c.950C>T
11 papers
NM_199334.5
p.A317T
c.949G>A
1 paper
NM_199334.5
p.T314M
c.941C>T
1 paper
NM_199334.5
p.T327P
c.979A>C
6 papers
NM_199334.5
p.T327A
c.979A>G
1 paper
NM_199334.5
p.T327K
c.980C>A
1 paper
NM_199334.5
p.S305P
c.913T>C
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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."