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.R1250H

c.3749G>A

Surrounding Variants

2 papers

NM_003235.5

p.R1250L

c.3749G>T

1 paper

NM_003235.5

p.V1256delFs

c.3767_3768delTG

14 papers

NM_003235.5

p.C1245R

c.3733T>C

1 paper

NM_003235.5

p.Q1243H

c.3729G>T

1 paper

NM_003235.5

p.Q1243*

c.3727C>T

2 papers

NM_003235.5

p.P1261fs

c.3781_3782fs

1 paper

NM_003235.5

p.T1238_G1239insA

c.3712_3716ins3

1 paper

NM_003235.5

p.I1263insFs

c.3788dupT

4 papers

NM_003235.5

p.I1263_C1264insFs

c.3789_3790insT

24 papers

NM_003235.5

p.C1264R

c.3790T>C

1 paper

NM_003235.5

p.C1264G

c.3790T>G

1 paper

NM_003235.5

p.I1234V

c.3700A>G