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

47 papers

NM_199334.5

p.R384C

c.1150C>T

Surrounding Variants

15 papers

NM_199334.5

p.R384H

c.1151G>A

1 paper

NM_199334.5

p.S383N

c.1148G>A

1 paper

NM_199334.5

p.A382T

c.1144G>A

7 papers

NM_199334.5

p.A382P

c.1144G>C

2 papers

NM_199334.5

p.A382insFs

c.1144_1145insT

2 papers

NM_199334.5

p.A382fs

c.1144_1145fs

1 paper

NM_199334.5

p.H381Q

c.1143C>A

1 paper

NM_199334.5

p.H381Q

c.1143C>G

3 papers

NM_199334.5

p.A382delFs

c.1144delG

2 papers

NM_199334.5

p.C380fs

c.1138_1139fs

1 paper

NM_199334.5

p.C380delFs

c.1139delG

1 paper

NM_199334.5

p.C380fs

c.1138_1139fs