Varaico: Literature-Extracted Genetic Variants

Gene:TG
Variant:p.I2067Splc

TG

2,250 papers

RefSeq Summary

Thyroglobulin (Tg) is a glycoprotein homodimer produced predominantly by the thryroid gland. It acts as a substrate for the synthesis of thyroxine and triiodothyronine as well as the storage of the in...

Pfam Domains

Thyroglobulin_1aa 34–92UCSCThyroglobulin type-1 repeat
Thyroglobulin_1aa 96–160UCSCThyroglobulin type-1 repeat
Thyroglobulin_1aa 301–358UCSCThyroglobulin type-1 repeat
Thyroglobulin_1aa 597–658UCSCThyroglobulin type-1 repeat
Thyroglobulin_1aa 662–726UCSCThyroglobulin type-1 repeat
Thyroglobulin_1aa 730–799UCSCThyroglobulin type-1 repeat

Gene Aliases

HGNC Name

thyroglobulin

HGNC Alias Symbols

TGN; AITD3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
17 papers
NM_003235.5
p.I2067Splc
c.6200-1G>C
Surrounding Variants
1 paper
NM_003235.5
p.I2067Splc
c.6200-25T>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."