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

13 papers

NM_001354712.2

p.R383C

c.1147C>T

Surrounding Variants

1 paper

NM_001354712.2

p.R383S

c.1147C>A

1 paper

NM_001354712.2

p.R383L

c.1148G>T

40 papers

NM_001354712.2

p.R383H

c.1148G>A

1 paper

NM_001354712.2

p.P384S

c.1150C>T

3 papers

NM_001354712.2

p.P384L

c.1151C>T

2 papers

NM_001354712.2

p.G385R

c.1153G>C

2 papers

NM_001354712.2

p.G385R

c.1153G>A

4 papers

NM_001354712.2

p.G385E

c.1154G>A

2 papers

NM_001354712.2

p.L386V

c.1156C>G

5 papers

NM_001354712.2

p.A387P

c.1159G>C

2 papers

NM_001354712.2

p.E390D

c.1170G>T

2 papers

NM_001354712.2

p.E390D

c.1170G>C