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.F567insFs

c.1700_1701ins7

Surrounding Variants

1 paper

NM_003235.5

p.L568insFs

c.1702_1703insC

1 paper

NM_003235.5

p.L568F

c.1702C>T

1 paper

NM_003235.5

p.A564A

c.1692C>T

1 paper

NM_003235.5

p.L571fs

c.1711_1712fs

6 papers

NM_003235.5

p.L571delFs

c.1712delT

1 paper

NM_003235.5

p.L571P

c.1712T>C

1 paper

NM_003235.5

p.N563_A564insT

c.1687_1691ins3

1 paper

NM_003235.5

p.Q562P

c.1685A>C

1 paper

NM_003235.5

p.Q562E

c.1684C>G

2 papers

NM_003235.5

p.L572L

c.1716G>A

1 paper

NM_003235.5

p.L574_P575ins6

c.1720_1724ins18

1 paper

NM_003235.5

p.L574P

c.1721T>C