Varaico: Literature-Extracted Genetic Variants

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

2 papers

NM_199334.5

p.Q286H

c.858G>C

Surrounding Variants

2 papers

NM_199334.5

p.Q286H

c.858G>T

1 paper

NM_199334.5

p.L287V

c.859C>G

1 paper

NM_199334.5

p.K288Q

c.862A>C

1 paper

NM_199334.5

p.K288E

c.862A>G

1 paper

NM_199334.5

p.K288R

c.863A>G

1 paper

NM_199334.5

p.K283R

c.848A>G

1 paper

NM_199334.5

p.K283Q

c.847A>C

9 papers

NM_199334.5

p.G291S

c.871G>A

1 paper

NM_199334.5

p.G278V

c.833G>T

1 paper

NM_199334.5

p.S296F

c.887C>T

1 paper

NM_199334.5

p.T275M

c.824C>T

1 paper

NM_199334.5

p.L276_M280del5

c.826_839del15