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.L456P

c.1367T>C

Surrounding Variants

2 papers

NM_003235.5

p.A457A

c.1371C>A

1 paper

NM_003235.5

p.L458H

c.1373T>A

1 paper

NM_003235.5

p.L458R

c.1373T>G

1 paper

NM_003235.5

p.L453M

c.1357C>A

1 paper

NM_003235.5

p.L453delins

c.1357_1358delinsAA

1 paper

NM_003235.5

p.G452G

c.1356G>A

2 papers

NM_003235.5

p.T461I

c.1382C>T

1 paper

NM_003235.5

p.R451Q

c.1352G>A

13 papers

NM_003235.5

p.R451*

c.1351C>T

1 paper

NM_003235.5

p.S450F

c.1349C>T

1 paper

NM_003235.5

p.S450fs

c.1348_1349fs

2 papers

NM_003235.5

p.S450fs

c.1348_1349fs