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.S314C

c.941C>G

Surrounding Variants

4 papers

NM_001354712.2

p.S314F

c.941C>T

3 papers

NM_001354712.2

p.S314Y

c.941C>A

20 papers

NM_001354712.2

p.M313T

c.938T>C

3 papers

NM_001354712.2

p.M313V

c.937A>G

13 papers

NM_001354712.2

p.R316C

c.946C>T

35 papers

NM_001354712.2

p.R316H

c.947G>A

2 papers

NM_001354712.2

p.A317S

c.949G>T

47 papers

NM_001354712.2

p.A317T

c.949G>A

7 papers

NM_001354712.2

p.A317V

c.950C>T

2 papers

NM_001354712.2

p.A317D

c.950C>A

1 paper

NM_001354712.2

p.E311Q

c.931G>C

4 papers

NM_001354712.2

p.E311K

c.931G>A