Varaico: Literature-Extracted Genetic Variants

Gene:THRA
Variant:p.I299V

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.I299V
c.895A>G
Surrounding Variants
1 paper
NM_199334.5
p.S296F
c.887C>T
1 paper
NM_199334.5
p.G303A
c.908G>C
1 paper
NM_199334.5
p.S305P
c.913T>C
9 papers
NM_199334.5
p.G291S
c.871G>A
1 paper
NM_199334.5
p.K288R
c.863A>G
1 paper
NM_199334.5
p.K288Q
c.862A>C
1 paper
NM_199334.5
p.K288E
c.862A>G
1 paper
NM_199334.5
p.L287V
c.859C>G
2 papers
NM_199334.5
p.Q286H
c.858G>C
2 papers
NM_199334.5
p.Q286H
c.858G>T
1 paper
NM_199334.5
p.T314M
c.941C>T
1 paper
NM_199334.5
p.K283R
c.848A>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."