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.G776R

c.2326G>A

Surrounding Variants

1 paper

NM_003235.5

p.N775insFs

c.2324_2325ins8

5 papers

NM_003235.5

p.P777L

c.2330C>T

1 paper

NM_003235.5

p.P778S

c.2332C>T

1 paper

NM_003235.5

p.C774R

c.2320T>C

11 papers

NM_003235.5

p.P778P

c.2334T>C

1 paper

NM_003235.5

p.E779delFs

c.2335delG

1 paper

NM_003235.5

p.E779K

c.2335G>A

2 papers

NM_003235.5

p.Q780K

c.2338C>A

3 papers

NM_003235.5

p.Q780*

c.2338C>T

1 paper

NM_003235.5

p.Q780delFs

c.2339delA

1 paper

NM_003235.5

p.V772_N775del4

c.2314_2324del12

1 paper

NM_003235.5

p.Q771R

c.2312A>G