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

1 paper

NM_199334.5

p.K340N

c.1020G>C

Surrounding Variants

1 paper

NM_199334.5

p.Q342L

c.1025A>T

1 paper

NM_199334.5

p.E339Q

c.1015G>C

1 paper

NM_199334.5

p.E343A

c.1028A>C

1 paper

NM_199334.5

p.K337R

c.1010A>G

1 paper

NM_199334.5

p.K337E

c.1009A>G

1 paper

NM_199334.5

p.K337_I338del1

c.1010_1012delAGA

1 paper

NM_199334.5

p.D336N

c.1006G>A

1 paper

NM_199334.5

p.D336H

c.1006G>C

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.V335L

c.1003G>C

1 paper

NM_199334.5

p.A348S

c.1042G>T