Varaico: Literature-Extracted Genetic Variants

THRB

550 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 105–176UCSCDouble treble clef zinc finger, C4 type

Hormone_recepaa 263–445UCSCLigand-binding domain of nuclear hormone receptor

Gene Aliases

HGNC Name

thyroid hormone receptor beta

HGNC Previous Symbols

ERBA2; PRTH

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

48 papers

NM_001354712.2

p.R429Q

c.1286G>A

Surrounding Variants

9 papers

NM_001354712.2

p.R429W

c.1285C>T

6 papers

NM_001354712.2

p.L428R

c.1283T>G

1 paper

NM_001354712.2

p.L428Q

c.1283T>A

1 paper

NM_001354712.2

p.L428V

c.1282C>G

1 paper

NM_001354712.2

p.I431L

c.1291A>T

2 papers

NM_001354712.2

p.I431V

c.1291A>G

1 paper

NM_001354712.2

p.I431L

c.1291A>C

12 papers

NM_001354712.2

p.I431T

c.1292T>C

1 paper

NM_001354712.2

p.D427G

c.1280A>G

5 papers

NM_001354712.2

p.I431M

c.1293A>G

1 paper

NM_001354712.2

p.I431fs

c.1291_1292fs

1 paper

NM_001354712.2

p.M430del1

c.1288_1290delCAT