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

3 papers

NM_003235.5

p.P2202R

c.6605C>G

Surrounding Variants

1 paper

NM_003235.5

p.R2208Q

c.6623G>A

1 paper

NM_003235.5

p.R2212_S2213insFs

c.6634_6637dup4

22 papers

NM_003235.5

p.A2215D

c.6644C>A

1 paper

NM_003235.5

p.L2191delFs

c.6571_6572delCT

1 paper

NM_003235.5

p.G2188Splc

c.6563-2A>G

3 papers

NM_003235.5

p.P2232R

c.6695C>G

5 papers

NM_003235.5

p.P2232L

c.6695C>T

1 paper

NM_003235.5

p.Y2233_A2234insT

c.6697_6701ins3

19 papers

NM_003235.5

p.A2234D

c.6701C>A

1 paper

NM_003235.5

p.E2240*

c.6718G>T

1 paper

NM_003235.5

p.R2242C

c.6724C>T

16 papers

NM_003235.5

p.R2242H

c.6725G>A