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

19 papers

NM_199334.5

p.L400R

c.1199T>G

Surrounding Variants

1 paper

NM_199334.5

p.L400V

c.1198C>G

1 paper

NM_199334.5

p.L400fs

c.1198_1199fs

7 papers

NM_199334.5

p.F401S

c.1202T>C

36 papers

NM_199334.5

p.P398H

c.1193C>A

19 papers

NM_199334.5

p.P398R

c.1193C>G

13 papers

NM_199334.5

p.E403K

c.1207G>A

40 papers

NM_199334.5

p.E403*

c.1207G>T

1 paper

NM_199334.5

p.F397delFs

c.1191delC

3 papers

NM_199334.5

p.F397fs

c.1189_1190fs

1 paper

NM_199334.5

p.F397insFs

c.1190_1191insT

5 papers

NM_199334.5

p.F405L

c.1213T>C

1 paper

NM_199334.5

p.E395Q

c.1183G>C