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.S269C

c.806C>G

Surrounding Variants

1 paper

NM_003235.5

p.S269A

c.805T>G

1 paper

NM_003235.5

p.P268_S269insFs

c.804_805insG

1 paper

NM_003235.5

p.P268delFs

c.802delC

3 papers

NM_003235.5

p.L267F

c.799C>T

1 paper

NM_003235.5

p.D266insFs

c.797_798insT

1 paper

NM_003235.5

p.D266N

c.796G>A

1 paper

NM_003235.5

p.E273*

c.817G>T

1 paper

NM_003235.5

p.L265P

c.794T>C

1 paper

NM_003235.5

p.T275delFs

c.825delC

2 papers

NM_003235.5

p.A263G

c.788C>G

1 paper

NM_003235.5

p.A263V

c.788C>T

1 paper

NM_003235.5

p.T275T

c.825C>T