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.P424A

c.1270C>G

Surrounding Variants

1 paper

NM_003235.5

p.P424S

c.1270C>T

1 paper

NM_003235.5

p.P424L

c.1271C>T

1 paper

NM_003235.5

p.V426E

c.1277T>A

1 paper

NM_003235.5

p.V426G

c.1277T>G

1 paper

NM_003235.5

p.G420insFs

c.1259_1260insA

1 paper

NM_003235.5

p.S430fs

c.1288_1289fs

1 paper

NM_003235.5

p.D418fs

c.1252_1253fs

1 paper

NM_003235.5

p.S430R

c.1290C>A

1 paper

NM_003235.5

p.V417_L422insFs

c.1250_1265dup16

1 paper

NM_003235.5

p.D418_G420delFs

c.1253_1259del7

1 paper

NM_003235.5

p.L415L

c.1245C>A

1 paper

NM_003235.5

p.F416_V417del2

c.1246_1250del6