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

2 papers

NM_001354712.2

p.P447L

c.1340C>T

Surrounding Variants

2 papers

NM_001354712.2

p.P447T

c.1339C>A

6 papers

NM_001354712.2

p.C446*

c.1338C>A

1 paper

NM_001354712.2

p.P447insFs

c.1341dupC

3 papers

NM_001354712.2

p.C446S

c.1337G>C

8 papers

NM_001354712.2

p.C446R

c.1336T>C

3 papers

NM_001354712.2

p.C446S

c.1336T>A

2 papers

NM_001354712.2

p.T448fs

c.1342_1343fs

7 papers

NM_001354712.2

p.E449*

c.1345G>T

4 papers

NM_001354712.2

p.E445*

c.1333G>T

1 paper

NM_001354712.2

p.E449fs

c.1345_1346fs

5 papers

NM_001354712.2

p.L450F

c.1348C>T

1 paper

NM_001354712.2

p.L450V

c.1348C>G