Varaico: Literature-Extracted Genetic Variants

Gene:THRA
Variant:p.E350K

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.E350K
c.1048G>A
Surrounding Variants
1 paper
NM_199334.5
p.F349L
c.1047C>A
1 paper
NM_199334.5
p.F349L
c.1047C>G
1 paper
NM_199334.5
p.F349L
c.1045T>C
3 papers
NM_199334.5
p.A348A
c.1044G>T
6 papers
NM_199334.5
p.H351Q
c.1053C>A
6 papers
NM_199334.5
p.H351Q
c.1053C>G
1 paper
NM_199334.5
p.A348S
c.1042G>T
1 paper
NM_199334.5
p.Y352C
c.1055A>G
2 papers
NM_199334.5
p.V353I
c.1057G>A
1 paper
NM_199334.5
p.L346V
c.1036C>G
1 paper
NM_199334.5
p.L346L
c.1036C>T
1 paper
NM_199334.5
p.E343A
c.1028A>C
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