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.Y321H

c.961T>C

Surrounding Variants

6 papers

NM_001354712.2

p.Y321C

c.962A>G

1 paper

NM_001354712.2

p.Y321S

c.962A>C

17 papers

NM_001354712.2

p.R320L

c.959G>T

5 papers

NM_001354712.2

p.R320P

c.959G>C

29 papers

NM_001354712.2

p.R320H

c.959G>A

11 papers

NM_001354712.2

p.D322H

c.964G>C

3 papers

NM_001354712.2

p.D322N

c.964G>A

32 papers

NM_001354712.2

p.R320C

c.958C>T

2 papers

NM_001354712.2

p.R320G

c.958C>G

2 papers

NM_001354712.2

p.R320S

c.958C>A

1 paper

NM_001354712.2

p.D322A

c.965A>C

1 paper

NM_001354712.2

p.P323L

c.968C>T