Varaico: Literature-Extracted Genetic Variants

Gene:THRB
Variant:p.N343delFs

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.N343delFs
c.1028delT
Surrounding Variants
2 papers
NM_001354712.2
p.N343K
c.1029T>G
2 papers
NM_001354712.2
p.N343K
c.1029T>A
3 papers
NM_001354712.2
p.G344R
c.1030G>C
3 papers
NM_001354712.2
p.G344R
c.1030G>A
4 papers
NM_001354712.2
p.G344A
c.1031G>C
9 papers
NM_001354712.2
p.G344E
c.1031G>A
6 papers
NM_001354712.2
p.G345C
c.1033G>T
30 papers
NM_001354712.2
p.G345R
c.1033G>C
10 papers
NM_001354712.2
p.G345S
c.1033G>A
8 papers
NM_001354712.2
p.K342I
c.1025A>T
7 papers
NM_001354712.2
p.G345V
c.1034G>T
7 papers
NM_001354712.2
p.G345D
c.1034G>A
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