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.E23Splc

c.68-6T>C

Surrounding Variants

1 paper

NM_003235.5

p.E23Splc

c.68-1G>A

1 paper

NM_003235.5

p.E23Splc

c.68-1G>T

1 paper

NM_003235.5

p.E23G

c.68A>G

1 paper

NM_003235.5

p.E23E

c.69G>A

1 paper

NM_003235.5

p.Q25E

c.73C>G

2 papers

NM_003235.5

p.V26insFs

c.76dupG

2 papers

NM_003235.5

p.Q25Q

c.75G>A

2 papers

NM_003235.5

p.V26insFs

c.76_77insC

1 paper

NM_003235.5

p.V26fs

c.76_77fs

1 paper

NM_003235.5

p.V26insFs

c.77_78insC

3 papers

NM_003235.5

p.D27N

c.79G>A

1 paper

NM_003235.5

p.D27A

c.80A>C