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

21 papers

NM_003235.5

p.G381delFs

c.1143delC

Surrounding Variants

1 paper

NM_003235.5

p.G381G

c.1143C>T

1 paper

NM_003235.5

p.G381R

c.1141G>C

1 paper

NM_003235.5

p.Y382fs

c.1144_1145fs

1 paper

NM_003235.5

p.S380L

c.1139C>T

1 paper

NM_003235.5

p.S384T

c.1151G>C

29 papers

NM_003235.5

p.F377F

c.1131T>C

1 paper

NM_003235.5

p.H386Y

c.1156C>T

2 papers

NM_003235.5

p.D387delFs

c.1161delC

1 paper

NM_003235.5

p.L375F

c.1123C>T

1 paper

NM_003235.5

p.L388L

c.1164G>T

1 paper

NM_003235.5

p.F389delFs

c.1167delC

1 paper

NM_003235.5

p.S373P

c.1117T>C