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

33 papers

NM_003235.5

p.R296*

c.886C>T

Surrounding Variants

1 paper

NM_003235.5

p.F295_R296insFs

c.885_886ins8

1 paper

NM_003235.5

p.F295F

c.885C>T

1 paper

NM_003235.5

p.F295insFs

c.884_885ins8

1 paper

NM_003235.5

p.F295delFs

c.883delT

1 paper

NM_003235.5

p.R294K

c.881G>A

1 paper

NM_003235.5

p.G293_R294Fs

c.879_880delinsAFs

1 paper

NM_003235.5

p.S292C

c.875C>G

1 paper

NM_003235.5

p.S292F

c.875C>T

2 papers

NM_003235.5

p.S292P

c.874T>C

1 paper

NM_003235.5

p.I291I

c.873C>T

1 paper

NM_003235.5

p.V290A

c.869T>C

1 paper

NM_003235.5

p.V290I

c.868G>A