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.D1513H

c.4537G>C

Surrounding Variants

6 papers

NM_003235.5

p.D1513delFs

c.4537delG

1 paper

NM_003235.5

p.Q1515_R1516ins4

c.4543_4547ins12

1 paper

NM_003235.5

p.C1510F

c.4529G>T

1 paper

NM_003235.5

p.A1519_L1521del3

c.4555_4562del9

2 papers

NM_003235.5

p.L1521_C1523del3

c.4561_4568del9

1 paper

NM_003235.5

p.L1521L

c.4563G>A

1 paper

NM_003235.5

p.D1524_Q1525insFs

c.4572_4573insA

2 papers

NM_003235.5

p.Q1525H

c.4575G>C

3 papers

NM_003235.5

p.Q1525H

c.4575G>T

19 papers

NM_003235.5

p.R1530*

c.4588C>T

3 papers

NM_003235.5

p.D1535G

c.4604A>G

1 paper

NM_003235.5

p.R1536M

c.4607G>T