Varaico: Literature-Extracted Genetic Variants

Gene:THRA
Variant:p.M388T

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.M388T
c.1163T>C
Surrounding Variants
4 papers
NM_199334.5
p.M388I
c.1164G>A
4 papers
NM_199334.5
p.M388I
c.1164G>C
4 papers
NM_199334.5
p.M388I
c.1164G>T
1 paper
NM_199334.5
p.V390A
c.1169T>C
15 papers
NM_199334.5
p.R384H
c.1151G>A
22 papers
NM_199334.5
p.C392*
c.1176C>A
47 papers
NM_199334.5
p.R384C
c.1150C>T
1 paper
NM_199334.5
p.S383N
c.1148G>A
1 paper
NM_199334.5
p.A382T
c.1144G>A
7 papers
NM_199334.5
p.A382P
c.1144G>C
2 papers
NM_199334.5
p.A382insFs
c.1144_1145insT
2 papers
NM_199334.5
p.A382fs
c.1144_1145fs
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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."