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.A507_S508del1

c.1521_1523delAAG

Surrounding Variants

1 paper

NM_003235.5

p.A507del1

c.1519_1521delGCA

1 paper

NM_003235.5

p.A507_G513del0

c.1519_1539del21

1 paper

NM_003235.5

p.L506insFs

c.1516_1517ins4

1 paper

NM_003235.5

p.L506F

c.1516C>T

1 paper

NM_003235.5

p.F509_L510insGG

c.1525_1529ins6

2 papers

NM_003235.5

p.G505D

c.1514G>A

1 paper

NM_003235.5

p.G505_L506insFs

c.1515_1516ins4

1 paper

NM_003235.5

p.N511fs

c.1531_1532fs

1 paper

NM_003235.5

p.N511S

c.1532A>G

1 paper

NM_003235.5

p.Q502*

c.1504C>T

1 paper

NM_003235.5

p.G513R

c.1537G>A

2 papers

NM_003235.5

p.R514G

c.1540A>G