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

3 papers

NM_003235.5

p.R717*

c.2149C>T

Surrounding Variants

1 paper

NM_003235.5

p.T716A

c.2146A>G

1 paper

NM_003235.5

p.T716delFs

c.2147delC

1 paper

NM_003235.5

p.S718delFs

c.2153delG

5 papers

NM_003235.5

p.A719G

c.2156C>G

1 paper

NM_003235.5

p.G715_T716del2

c.2143_2147del6

1 paper

NM_003235.5

p.G721delFs

c.2163delG

1 paper

NM_003235.5

p.Q711insFs

c.2132_2133insG

7 papers

NM_003235.5

p.Q711*

c.2131C>T

1 paper

NM_003235.5

p.G710insFs

c.2129_2130insTG

1 paper

NM_003235.5

p.K724R

c.2171A>G

1 paper

NM_003235.5

p.E709V

c.2126A>T

1 paper

NM_003235.5

p.K725insFs

c.2174dupA