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.R854Q

c.2561G>A

Surrounding Variants

2 papers

NM_003235.5

p.G852_P855delFs

c.2556_2563del8

1 paper

NM_003235.5

p.E859delFs

c.2576delA

1 paper

NM_003235.5

p.A848S

c.2542G>T

1 paper

NM_003235.5

p.I861V

c.2581A>G

1 paper

NM_003235.5

p.L847P

c.2540T>C

1 paper

NM_003235.5

p.I861delFs

c.2583delC

1 paper

NM_003235.5

p.L863insFs

c.2587_2588insG

1 paper

NM_003235.5

p.L863_L867delFs

c.2589_2599del11

1 paper

NM_003235.5

p.V845_P846insC

c.2533_2537ins3

2 papers

NM_003235.5

p.P865_L867delFs

c.2593_2600del8

3 papers

NM_003235.5

p.P865T

c.2593C>A

1 paper

NM_003235.5

p.P865_Y866insT

c.2593_2597ins3