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

4 papers

NM_001354712.2

p.H412R

c.1235A>G

Surrounding Variants

2 papers

NM_001354712.2

p.H413D

c.1237C>G

4 papers

NM_001354712.2

p.K411E

c.1231A>G

3 papers

NM_001354712.2

p.V414M

c.1240G>A

2 papers

NM_001354712.2

p.R410Q

c.1229G>A

1 paper

NM_001354712.2

p.V414V

c.1242G>A

1 paper

NM_001354712.2

p.R410*

c.1228C>T

1 paper

NM_001354712.2

p.T415I

c.1244C>T

1 paper

NM_001354712.2

p.Y409C

c.1226A>G

2 papers

NM_001354712.2

p.N408S

c.1223A>G

4 papers

NM_001354712.2

p.F417L

c.1249T>C

4 papers

NM_001354712.2

p.F417L

c.1251T>G

1 paper

NM_001354712.2

p.F417F

c.1251T>C