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.R38fs

c.112_113fs

Surrounding Variants

8 papers

NM_003235.5

p.R38K

c.113G>A

1 paper

NM_003235.5

p.R38delFs

c.112delA

1 paper

NM_003235.5

p.Q37L

c.110A>T

1 paper

NM_003235.5

p.R38del1

c.112_113delAGG

1 paper

NM_003235.5

p.R38R

c.114G>A

1 paper

NM_003235.5

p.Q37K

c.109C>A

1 paper

NM_003235.5

p.Q37E

c.109C>G

1 paper

NM_003235.5

p.Q37*

c.109C>T

1 paper

NM_003235.5

p.E39*

c.115G>T

1 paper

NM_003235.5

p.L36L

c.108G>A

1 paper

NM_003235.5

p.L36_Q37insFs

c.108_109insG

1 paper

NM_003235.5

p.T40A

c.118A>G