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.P89delFs

c.266delC

Surrounding Variants

1 paper

NM_003235.5

p.P89S

c.265C>T

3 papers

NM_003235.5

p.R88Q

c.263G>A

3 papers

NM_003235.5

p.R88W

c.262C>T

1 paper

NM_003235.5

p.R88_V90delFs

c.264_268del5

1 paper

NM_003235.5

p.V90V

c.270G>A

1 paper

NM_003235.5

p.P86L

c.257C>T

1 paper

NM_003235.5

p.Q85_P86insFs

c.255_256insG

1 paper

NM_003235.5

p.Q85R

c.254A>G

1 paper

NM_003235.5

p.Q85L

c.254A>T

2 papers

NM_003235.5

p.C92Splc

c.274+1G>A

17 papers

NM_003235.5

p.C92Splc

c.274+2T>G

2 papers

NM_003235.5

p.S83G

c.247A>G