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

6 papers

NM_001354712.2

p.P452L

c.1355C>T

Surrounding Variants

3 papers

NM_001354712.2

p.P452R

c.1355C>G

1 paper

NM_001354712.2

p.P452S

c.1354C>T

1 paper

NM_001354712.2

p.P452fs

c.1354_1355fs

1 paper

NM_001354712.2

p.P452T

c.1354C>A

39 papers

NM_001354712.2

p.P453S

c.1357C>T

26 papers

NM_001354712.2

p.P453A

c.1357C>G

6 papers

NM_001354712.2

p.F451L

c.1353C>G

2 papers

NM_001354712.2

p.F451insFs

c.1352dupT

1 paper

NM_001354712.2

p.F451_P452insFs

c.1353_1354ins7

2 papers

NM_001354712.2

p.F451fs

c.1351_1352fs

62 papers

NM_001354712.2

p.P453T

c.1357C>A

6 papers

NM_001354712.2

p.F451L

c.1353C>A