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.V602G

c.1805T>G

Surrounding Variants

1 paper

NM_003235.5

p.L603delFs

c.1807delC

1 paper

NM_003235.5

p.T601A

c.1801A>G

1 paper

NM_003235.5

p.E600_T601delFs

c.1800_1801delAA

1 paper

NM_003235.5

p.E600_S604delFs

c.1798_1811del14

1 paper

NM_003235.5

p.T607_Q610del4

c.1819_1829del12

1 paper

NM_003235.5

p.Q606*

c.1816C>T

1 paper

NM_003235.5

p.V598_T601ins1

c.1794_1802dup9

1 paper

NM_003235.5

p.V598L

c.1792G>C

1 paper

NM_003235.5

p.V598L

c.1792G>T

1 paper

NM_003235.5

p.G596A

c.1787G>C

1 paper

NM_003235.5

p.L595S

c.1784T>C

1 paper

NM_003235.5

p.D594V

c.1781A>T