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.T621insFs

c.1861dupA

Surrounding Variants

1 paper

NM_003235.5

p.C620S

c.1859G>C

1 paper

NM_003235.5

p.C620R

c.1858T>C

1 paper

NM_003235.5

p.C620_T621insG

c.1858_1862ins3

2 papers

NM_003235.5

p.S619L

c.1856C>T

1 paper

NM_003235.5

p.P618L

c.1853C>T

1 paper

NM_003235.5

p.G624delFs

c.1871delG

2 papers

NM_003235.5

p.G624fs

c.1870_1871fs

1 paper

NM_003235.5

p.D628delFs

c.1882delG

1 paper

NM_003235.5

p.E613G

c.1838A>G

1 paper

NM_003235.5

p.D628delFs

c.1883delA

1 paper

NM_003235.5

p.D628V

c.1883A>T

4 papers

NM_003235.5

p.Q630*

c.1888C>T