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.S649_R650delFs

c.1947_1948delAA

Surrounding Variants

1 paper

NM_003235.5

p.G648_S649insG

c.1942_1946ins3

1 paper

NM_003235.5

p.R652_G653insFs

c.1956_1957insCA

6 papers

NM_003235.5

p.G653D

c.1958G>A

1 paper

NM_003235.5

p.E645del1

c.1933_1934delGAG

4 papers

NM_003235.5

p.Q655*

c.1963C>T

1 paper

NM_003235.5

p.W642*

c.1926G>A

1 paper

NM_003235.5

p.R657K

c.1970G>A

1 paper

NM_003235.5

p.C658_T660del3

c.1972_1979del9

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.C638Y

c.1913G>A

5 papers

NM_003235.5

p.W637*

c.1911G>A