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.L1217P

c.3650T>C

Surrounding Variants

1 paper

NM_003235.5

p.P1216delFs

c.3647delC

1 paper

NM_003235.5

p.R1214Q

c.3641G>A

1 paper

NM_003235.5

p.P1213L

c.3638C>T

5 papers

NM_003235.5

p.S1222L

c.3665C>T

1 paper

NM_003235.5

p.S1212N

c.3635G>A

1 paper

NM_003235.5

p.E1223_V1224insG

c.3667_3671ins3

1 paper

NM_003235.5

p.V1225_G1226del2

c.3673_3677del6

2 papers

NM_003235.5

p.V1225F

c.3673G>T

1 paper

NM_003235.5

p.G1226delFs

c.3677delG

1 paper

NM_003235.5

p.G1227insFs

c.3679dupG

1 paper

NM_003235.5

p.T1228_G1239del12

c.3682_3716del36

1 paper

NM_003235.5

p.T1228insFs

c.3683dupC