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.Q515E

c.1543C>G

Surrounding Variants

2 papers

NM_003235.5

p.R514G

c.1540A>G

1 paper

NM_003235.5

p.E516Q

c.1546G>C

1 paper

NM_003235.5

p.E516_D517insFs

c.1548_1549insC

1 paper

NM_003235.5

p.G513R

c.1537G>A

1 paper

NM_003235.5

p.N511S

c.1532A>G

1 paper

NM_003235.5

p.N511fs

c.1531_1532fs

1 paper

NM_003235.5

p.P521insFs

c.1561dupC

1 paper

NM_003235.5

p.F509_L510insGG

c.1525_1529ins6

2 papers

NM_003235.5

p.P521L

c.1562C>T

1 paper

NM_003235.5

p.L522F

c.1564C>T

1 paper

NM_003235.5

p.A507_S508del1

c.1521_1523delAAG

1 paper

NM_003235.5

p.S523P

c.1567T>C