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

1 paper

NM_001354712.2

p.H441fs

c.1321_1322fs

Surrounding Variants

1 paper

NM_001354712.2

p.L440delFs

c.1320delC

2 papers

NM_001354712.2

p.L440P

c.1319T>C

11 papers

NM_001354712.2

p.M442V

c.1324A>G

9 papers

NM_001354712.2

p.M442T

c.1325T>C

1 paper

NM_001354712.2

p.M442K

c.1325T>A

3 papers

NM_001354712.2

p.F439L

c.1317C>G

3 papers

NM_001354712.2

p.F439L

c.1317C>A

3 papers

NM_001354712.2

p.F439L

c.1315T>C

1 paper

NM_001354712.2

p.K443*

c.1327A>T

13 papers

NM_001354712.2

p.K443E

c.1327A>G

2 papers

NM_001354712.2

p.M442_K443delins

c.1326_1327delinsAT

1 paper

NM_001354712.2

p.R438fs

c.1312_1313fs