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.F404S

c.1211T>C

Surrounding Variants

3 papers

NM_003235.5

p.F404Y

c.1211T>A

1 paper

NM_003235.5

p.T406A

c.1216A>G

1 paper

NM_003235.5

p.A402T

c.1204G>A

1 paper

NM_003235.5

p.S407Y

c.1220C>A

1 paper

NM_003235.5

p.C408R

c.1222T>C

1 paper

NM_003235.5

p.C408insFs

c.1223_1224insG

1 paper

NM_003235.5

p.R400K

c.1199G>A

1 paper

NM_003235.5

p.C408F

c.1223G>T

1 paper

NM_003235.5

p.P409delFs

c.1225_1226delCC

1 paper

NM_003235.5

p.R400*

c.1198A>T

2 papers

NM_003235.5

p.P409A

c.1225C>G

1 paper

NM_003235.5

p.P409S

c.1225C>T