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

2 papers

NM_003235.5

p.Q829*

c.2485C>T

Surrounding Variants

11 papers

NM_003235.5

p.Q830E

c.2488C>G

1 paper

NM_003235.5

p.L824_Y825insFs

c.2472_2473insT

1 paper

NM_003235.5

p.V835A

c.2504T>C

1 paper

NM_003235.5

p.Q822R

c.2465A>G

1 paper

NM_003235.5

p.I821T

c.2462T>C

1 paper

NM_003235.5

p.I821delFs

c.2461delA

1 paper

NM_003235.5

p.S837_Q838insFs

c.2511_2512insC

1 paper

NM_003235.5

p.F820Y

c.2459T>A

1 paper

NM_003235.5

p.S818T

c.2453G>C

3 papers

NM_003235.5

p.P840H

c.2519C>A

1 paper

NM_003235.5

p.P840L

c.2519C>T

1 paper

NM_003235.5

p.P840P

c.2520T>G