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.N76delFs

c.228delC

Surrounding Variants

2 papers

NM_003235.5

p.N76_G77insC

c.226_230ins3

2 papers

NM_003235.5

p.N76D

c.226A>G

10 papers

NM_003235.5

p.N76N

c.228C>T

1 paper

NM_003235.5

p.A75A

c.225C>T

9 papers

NM_003235.5

p.G77S

c.229G>A

1 paper

NM_003235.5

p.G77_S78insC

c.229_233ins3

1 paper

NM_003235.5

p.A75D

c.224C>A

1 paper

NM_003235.5

p.A75V

c.224C>T

1 paper

NM_003235.5

p.G77G

c.231C>A

1 paper

NM_003235.5

p.S78C

c.232A>T

1 paper

NM_003235.5

p.S78delFs

c.233delG

1 paper

NM_003235.5

p.A75delFs

c.223delG