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.Q676R

c.2027A>G

Surrounding Variants

1 paper

NM_003235.5

p.A678insFs

c.2033_2034insC

1 paper

NM_003235.5

p.M673I

c.2019G>T

1 paper

NM_003235.5

p.T681S

c.2041A>T

1 paper

NM_003235.5

p.T681T

c.2043C>A

1 paper

NM_003235.5

p.Q670*

c.2008C>T

2 papers

NM_003235.5

p.M669K

c.2006T>A

1 paper

NM_003235.5

p.F683S

c.2048T>C

1 paper

NM_003235.5

p.M669V

c.2005A>G

1 paper

NM_003235.5

p.V684_P685insFs

c.2052_2053insA

10 papers

NM_003235.5

p.R668C

c.2002C>T

1 paper

NM_003235.5

p.P685insFs

c.2053_2054insA

1 paper

NM_003235.5

p.P685_T688del0

c.2055_2063del9