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

6 papers

NM_003235.5

p.A53T

c.157G>A

Surrounding Variants

1 paper

NM_003235.5

p.A53delFs

c.158delC

1 paper

NM_003235.5

p.A53E

c.158C>A

3 papers

NM_003235.5

p.A53V

c.158C>T

1 paper

NM_003235.5

p.A53A

c.159A>C

1 paper

NM_003235.5

p.C52delFs

c.156delT

1 paper

NM_003235.5

p.E54K

c.160G>A

2 papers

NM_003235.5

p.E54A

c.161A>C

1 paper

NM_003235.5

p.Q51H

c.153G>C

1 paper

NM_003235.5

p.E54E

c.162G>A

1 paper

NM_003235.5

p.D55V

c.164A>T

1 paper

NM_003235.5

p.P50H

c.149C>A

1 paper

NM_003235.5

p.D55D

c.165T>C