Varaico: Literature-Extracted Genetic Variants

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

3 papers

NM_003235.5

p.R445*

c.1333C>T

Surrounding Variants

3 papers

NM_003235.5

p.I444V

c.1330A>G

2 papers

NM_003235.5

p.A446E

c.1337C>A

1 paper

NM_003235.5

p.A443G

c.1328C>G

1 paper

NM_003235.5

p.A443V

c.1328C>T

1 paper

NM_003235.5

p.F448insFs

c.1343dupT

1 paper

NM_003235.5

p.A443fs

c.1327_1328fs

1 paper

NM_003235.5

p.F448Y

c.1343T>A

1 paper

NM_003235.5

p.F448C

c.1343T>G

1 paper

NM_003235.5

p.K441R

c.1322A>G

1 paper

NM_003235.5

p.P449_L453del5

c.1345_1358del15

11 papers

NM_003235.5

p.S450delFs

c.1348delT

1 paper

NM_003235.5

p.S450fs

c.1348_1349fs