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

5 papers

NM_001354712.2

p.P453L

c.1358C>T

Surrounding Variants

5 papers

NM_001354712.2

p.P453R

c.1358C>G

21 papers

NM_001354712.2

p.P453H

c.1358C>A

1 paper

NM_001354712.2

p.P453delins

c.1357_1358delinsAA

2 papers

NM_001354712.2

p.E449_P453delFs

c.1347_1357del11

8 papers

NM_001354712.2

p.P453insFs

c.1358dupC

1 paper

NM_001354712.2

p.P453fs

c.1357_1358fs

1 paper

NM_001354712.2

p.F451delFs

c.1353delG

39 papers

NM_001354712.2

p.P453S

c.1357C>T

26 papers

NM_001354712.2

p.P453A

c.1357C>G

62 papers

NM_001354712.2

p.P453T

c.1357C>A

8 papers

NM_001354712.2

p.L454V

c.1360T>G

1 paper

NM_001354712.2

p.P452fs

c.1354_1355fs