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.W239R

c.715T>C

Surrounding Variants

2 papers

NM_001354712.2

p.W239R

c.715T>A

2 papers

NM_001354712.2

p.S237G

c.709A>G

1 paper

NM_001354712.2

p.Q241P

c.722A>C

1 paper

NM_001354712.2

p.K242T

c.725A>C

1 paper

NM_001354712.2

p.Q235R

c.704A>G

52 papers

NM_001354712.2

p.R243W

c.727C>T

3 papers

NM_001354712.2

p.Q235*

c.703C>T

1 paper

NM_001354712.2

p.R243G

c.727C>G

56 papers

NM_001354712.2

p.R243Q

c.728G>A

1 paper

NM_001354712.2

p.A234V

c.701C>T

4 papers

NM_001354712.2

p.A234D

c.701C>A

1 paper

NM_001354712.2

p.A234P

c.700G>C