Varaico: Literature-Extracted Genetic Variants

Gene:THRB
Variant:p.V349L

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
1 paper
NM_001354712.2
p.V349L
c.1045G>C
Surrounding Variants
1 paper
NM_001354712.2
p.V349L
c.1045G>T
10 papers
NM_001354712.2
p.V349M
c.1045G>A
2 papers
NM_001354712.2
p.V349A
c.1046T>C
1 paper
NM_001354712.2
p.V348V
c.1044G>T
1 paper
NM_001354712.2
p.V348E
c.1043T>A
1 paper
NM_001354712.2
p.S350P
c.1048T>C
3 papers
NM_001354712.2
p.S350L
c.1049C>T
5 papers
NM_001354712.2
p.G347A
c.1040G>C
19 papers
NM_001354712.2
p.G347E
c.1040G>A
7 papers
NM_001354712.2
p.G347W
c.1039G>T
3 papers
NM_001354712.2
p.G347R
c.1039G>C
3 papers
NM_001354712.2
p.G347R
c.1039G>A
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