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.F403L

c.1207T>C

Surrounding Variants

2 papers

NM_001354712.2

p.F403L

c.1209T>G

2 papers

NM_001354712.2

p.F403L

c.1209T>A

2 papers

NM_001354712.2

p.L401P

c.1202T>C

5 papers

NM_001354712.2

p.L400R

c.1199T>G

1 paper

NM_001354712.2

p.L400fs

c.1198_1199fs

2 papers

NM_001354712.2

p.S398G

c.1192A>G

2 papers

NM_001354712.2

p.N408S

c.1223A>G

2 papers

NM_001354712.2

p.D397G

c.1190A>G

1 paper

NM_001354712.2

p.D397insFs

c.1190_1191insT

1 paper

NM_001354712.2

p.Y409C

c.1226A>G

1 paper

NM_001354712.2

p.R410*

c.1228C>T

2 papers

NM_001354712.2

p.R410Q

c.1229G>A