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

1 paper

NM_001354712.2

p.L422R

c.1265T>G

Surrounding Variants

1 paper

NM_001354712.2

p.M423V

c.1267A>G

2 papers

NM_001354712.2

p.K420R

c.1259A>G

2 papers

NM_001354712.2

p.V425L

c.1273G>T

2 papers

NM_001354712.2

p.V425L

c.1273G>C

8 papers

NM_001354712.2

p.T426I

c.1277C>T

4 papers

NM_001354712.2

p.F417L

c.1251T>G

1 paper

NM_001354712.2

p.F417F

c.1251T>C

4 papers

NM_001354712.2

p.F417L

c.1251T>A

1 paper

NM_001354712.2

p.D427G

c.1280A>G

4 papers

NM_001354712.2

p.F417L

c.1249T>C

1 paper

NM_001354712.2

p.L428V

c.1282C>G

6 papers

NM_001354712.2

p.L428R

c.1283T>G