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

2 papers

NM_003235.5

p.C70S

c.208T>A

Surrounding Variants

1 paper

NM_003235.5

p.C70delFs

c.209delG

1 paper

NM_003235.5

p.S69_C70insFs

c.207_208insG

1 paper

NM_003235.5

p.S69S

c.207C>G

1 paper

NM_003235.5

p.C70Y

c.209G>A

2 papers

NM_003235.5

p.C70S

c.209G>C

2 papers

NM_003235.5

p.S69Y

c.206C>A

1 paper

NM_003235.5

p.C70W

c.210C>G

1 paper

NM_003235.5

p.W71delFs

c.211delT

1 paper

NM_003235.5

p.S69T

c.205T>A

2 papers

NM_003235.5

p.W71*

c.212G>A

2 papers

NM_003235.5

p.W71*

c.213G>A

1 paper

NM_003235.5

p.R68H

c.203G>A