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

1 paper

NM_003235.5

p.A286A

c.858A>C

Surrounding Variants

2 papers

NM_003235.5

p.A286V

c.857C>T

1 paper

NM_003235.5

p.V287L

c.859G>C

1 paper

NM_003235.5

p.A286S

c.856G>T

1 paper

NM_003235.5

p.A286delFs

c.857delC

1 paper

NM_003235.5

p.Q288L

c.863A>T

1 paper

NM_003235.5

p.S289insFs

c.865_866insT

2 papers

NM_003235.5

p.S289*

c.866C>A

1 paper

NM_003235.5

p.S289*

c.866C>G

1 paper

NM_003235.5

p.V290delFs

c.868delG

1 paper

NM_003235.5

p.V290I

c.868G>A

1 paper

NM_003235.5

p.R283L

c.848G>T

1 paper

NM_003235.5

p.R283delFs

c.848delG