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.R283delFs

c.848delG

Surrounding Variants

1 paper

NM_003235.5

p.R282_R283insFs

c.846_847insC

1 paper

NM_003235.5

p.R282S

c.846A>C

1 paper

NM_003235.5

p.R283L

c.848G>T

1 paper

NM_003235.5

p.R282insFs

c.845_846insC

1 paper

NM_003235.5

p.R282G

c.844A>G

1 paper

NM_003235.5

p.R282*

c.844A>T

1 paper

NM_003235.5

p.Q281delFs

c.842delA

1 paper

NM_003235.5

p.Q281delFs

c.841delC

1 paper

NM_003235.5

p.L280R

c.839T>G

1 paper

NM_003235.5

p.L280delFs

c.839delT

1 paper

NM_003235.5

p.L280fs

c.838_839fs

1 paper

NM_003235.5

p.A286S

c.856G>T