Varaico: Literature-Extracted Genetic Variants

Gene:THRB
Variant:p.F417L

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
4 papers
NM_001354712.2
p.F417L
c.1249T>C
Surrounding Variants
4 papers
NM_001354712.2
p.F417L
c.1251T>G
1 paper
NM_001354712.2
p.F417F
c.1251T>C
4 papers
NM_001354712.2
p.F417L
c.1251T>A
1 paper
NM_001354712.2
p.T415I
c.1244C>T
1 paper
NM_001354712.2
p.V414V
c.1242G>A
3 papers
NM_001354712.2
p.V414M
c.1240G>A
2 papers
NM_001354712.2
p.K420R
c.1259A>G
2 papers
NM_001354712.2
p.H413D
c.1237C>G
4 papers
NM_001354712.2
p.H412R
c.1235A>G
1 paper
NM_001354712.2
p.L422R
c.1265T>G
4 papers
NM_001354712.2
p.K411E
c.1231A>G
1 paper
NM_001354712.2
p.M423V
c.1267A>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."