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.G2253_W2255delFs

c.6759_6765del7

Surrounding Variants

1 paper

NM_003235.5

p.W2251C

c.6753G>C

1 paper

NM_003235.5

p.W2251C

c.6753G>T

1 paper

NM_003235.5

p.S2254fs

c.6760_6761fs

1 paper

NM_003235.5

p.S2254F

c.6761C>T

1 paper

NM_003235.5

p.P2248T

c.6742C>A

1 paper

NM_003235.5

p.R2261Splc

c.6782+1G>T

16 papers

NM_003235.5

p.R2242H

c.6725G>A

1 paper

NM_003235.5

p.R2242C

c.6724C>T

1 paper

NM_003235.5

p.E2240*

c.6718G>T

19 papers

NM_003235.5

p.A2234D

c.6701C>A

1 paper

NM_003235.5

p.Y2233_A2234insT

c.6697_6701ins3

3 papers

NM_003235.5

p.P2232R

c.6695C>G