Varaico: Literature-Extracted Genetic Variants

Gene:TG
Variant:p.G490D

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.G490D
c.1469G>A
Surrounding Variants
1 paper
NM_003235.5
p.T491I
c.1472C>T
1 paper
NM_003235.5
p.T491T
c.1473A>C
1 paper
NM_003235.5
p.R492_G493ins8
c.1474_1478ins24
2 papers
NM_003235.5
p.G493S
c.1477G>A
2 papers
NM_003235.5
p.G493R
c.1477G>C
1 paper
NM_003235.5
p.G487R
c.1459G>A
1 paper
NM_003235.5
p.G487R
c.1459G>C
1 paper
NM_003235.5
p.G487_A488insA
c.1459_1463ins3
1 paper
NM_003235.5
p.T494A
c.1480A>G
1 paper
NM_003235.5
p.N484S
c.1451A>G
1 paper
NM_003235.5
p.N484Y
c.1450A>T
1 paper
NM_003235.5
p.F483Y
c.1448T>A
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