Varaico: Literature-Extracted Genetic Variants

Gene:THRB
Variant:p.R438fs

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.R438fs
c.1312_1313fs
Surrounding Variants
19 papers
NM_001354712.2
p.R438C
c.1312C>T
1 paper
NM_001354712.2
p.H435_R438insFs
c.1305_1312dup8
3 papers
NM_001354712.2
p.R438P
c.1313G>C
44 papers
NM_001354712.2
p.R438H
c.1313G>A
3 papers
NM_001354712.2
p.R438delFs
c.1312delG
1 paper
NM_001354712.2
p.R438fs
c.1312_1313fs
3 papers
NM_001354712.2
p.F439L
c.1315T>C
1 paper
NM_001354712.2
p.S437G
c.1309A>G
1 paper
NM_001354712.2
p.A436fs
c.1306_1307fs
3 papers
NM_001354712.2
p.F439L
c.1317C>G
3 papers
NM_001354712.2
p.F439L
c.1317C>A
1 paper
NM_001354712.2
p.A436insFs
c.1306_1307insT
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