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

8 papers

NM_001354712.2

p.K342I

c.1025A>T

Surrounding Variants

4 papers

NM_001354712.2

p.L341P

c.1022T>C

2 papers

NM_001354712.2

p.N343K

c.1029T>G

2 papers

NM_001354712.2

p.N343K

c.1029T>A

1 paper

NM_001354712.2

p.N343delFs

c.1028delT

4 papers

NM_001354712.2

p.L341V

c.1021C>G

11 papers

NM_001354712.2

p.Q340H

c.1020G>T

12 papers

NM_001354712.2

p.Q340H

c.1020G>C

3 papers

NM_001354712.2

p.G344R

c.1030G>C

3 papers

NM_001354712.2

p.G344R

c.1030G>A

4 papers

NM_001354712.2

p.G344A

c.1031G>C

9 papers

NM_001354712.2

p.G344E

c.1031G>A

1 paper

NM_001354712.2

p.Q340E

c.1018C>G