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.E663A

c.1988A>C

Surrounding Variants

8 papers

NM_003235.5

p.E663K

c.1987G>A

1 paper

NM_003235.5

p.C662*

c.1986T>A

1 paper

NM_003235.5

p.C662_E663delFs

c.1986_1989del4

13 papers

NM_003235.5

p.A667T

c.1999G>A

1 paper

NM_003235.5

p.A667D

c.2000C>A

10 papers

NM_003235.5

p.R668C

c.2002C>T

1 paper

NM_003235.5

p.C658G

c.1972T>G

1 paper

NM_003235.5

p.C658delFs

c.1973_1974delGC

1 paper

NM_003235.5

p.M669V

c.2005A>G

1 paper

NM_003235.5

p.C658_T660del3

c.1972_1979del9

1 paper

NM_003235.5

p.R657K

c.1970G>A

2 papers

NM_003235.5

p.M669K

c.2006T>A