Varaico: Literature-Extracted Genetic Variants

Gene:THRB
Variant:p.R391K

THRB

550 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 105–176UCSCDouble treble clef zinc finger, C4 type
Hormone_recepaa 263–445UCSCLigand-binding domain of nuclear hormone receptor

Gene Aliases

HGNC Name

thyroid hormone receptor beta

HGNC Previous Symbols

ERBA2; PRTH

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001354712.2
p.R391K
c.1172G>A
Surrounding Variants
1 paper
NM_001354712.2
p.R391S
c.1173A>C
2 papers
NM_001354712.2
p.E390D
c.1170G>T
2 papers
NM_001354712.2
p.E390D
c.1170G>C
5 papers
NM_001354712.2
p.A387P
c.1159G>C
2 papers
NM_001354712.2
p.L386V
c.1156C>G
4 papers
NM_001354712.2
p.G385E
c.1154G>A
2 papers
NM_001354712.2
p.D397G
c.1190A>G
1 paper
NM_001354712.2
p.D397insFs
c.1190_1191insT
2 papers
NM_001354712.2
p.G385R
c.1153G>C
2 papers
NM_001354712.2
p.G385R
c.1153G>A
2 papers
NM_001354712.2
p.S398G
c.1192A>G
3 papers
NM_001354712.2
p.P384L
c.1151C>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."