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.W2562*

c.7686G>A

Surrounding Variants

1 paper

NM_003235.5

p.W2562*

c.7685G>A

1 paper

NM_003235.5

p.Y2563C

c.7688A>G

1 paper

NM_003235.5

p.A2558V

c.7673C>T

1 paper

NM_003235.5

p.A2558delFs

c.7672delG

1 paper

NM_003235.5

p.V2556_Y2563del8

c.7666_7688del24

1 paper

NM_003235.5

p.S2552*

c.7655C>A

1 paper

NM_003235.5

p.S2552*

c.7655C>G

1 paper

NM_003235.5

p.S2575F

c.7724C>T

3 papers

NM_003235.5

p.L2547Q

c.7640T>A

1 paper

NM_003235.5

p.L2547P

c.7640T>C

1 paper

NM_003235.5

p.Q2541*

c.7621C>T

15 papers

NM_003235.5

p.R2585W

c.7753C>T