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.I412delFs

c.1235delT

Surrounding Variants

1 paper

NM_003235.5

p.I412I

c.1236C>A

1 paper

NM_003235.5

p.K413insFs

c.1238_1239insA

1 paper

NM_003235.5

p.I412I

c.1236C>T

1 paper

NM_003235.5

p.K413insFs

c.1237_1238ins4

1 paper

NM_003235.5

p.K413Q

c.1237A>C

1 paper

NM_003235.5

p.K413T

c.1238A>C

1 paper

NM_003235.5

p.K413R

c.1238A>G

1 paper

NM_003235.5

p.P410H

c.1229C>A

2 papers

NM_003235.5

p.P410L

c.1229C>T

1 paper

NM_003235.5

p.P410S

c.1228C>T

1 paper

NM_003235.5

p.E414K

c.1240G>A

1 paper

NM_003235.5

p.E414A

c.1241A>C