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.G473fs

c.1417_1418fs

Surrounding Variants

1 paper

NM_003235.5

p.G473delFs

c.1418delG

1 paper

NM_003235.5

p.K475N

c.1425A>T

1 paper

NM_003235.5

p.L471delFs

c.1411delC

2 papers

NM_003235.5

p.N470D

c.1408A>G

1 paper

NM_003235.5

p.Q469delFs

c.1407delA

4 papers

NM_003235.5

p.L467P

c.1400T>C

1 paper

NM_003235.5

p.L467F

c.1399C>T

2 papers

NM_003235.5

p.V480I

c.1438G>A

2 papers

NM_003235.5

p.V480D

c.1439T>A

1 paper

NM_003235.5

p.G481D

c.1442G>A

1 paper

NM_003235.5

p.P464Q

c.1391C>A

1 paper

NM_003235.5

p.Q482*

c.1444C>T