Varaico: Literature-Extracted Genetic Variants

Gene:TG
Variant:p.N557Y

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.N557Y
c.1669A>T
Surrounding Variants
5 papers
NM_003235.5
p.I556V
c.1666A>G
1 paper
NM_003235.5
p.L558L
c.1672C>T
1 paper
NM_003235.5
p.E560K
c.1678G>A
2 papers
NM_003235.5
p.F552C
c.1655T>G
1 paper
NM_003235.5
p.Q562E
c.1684C>G
1 paper
NM_003235.5
p.F552L
c.1654T>C
1 paper
NM_003235.5
p.Q562P
c.1685A>C
2 papers
NM_003235.5
p.S551N
c.1652G>A
1 paper
NM_003235.5
p.N563_A564insT
c.1687_1691ins3
1 paper
NM_003235.5
p.G550A
c.1649G>C
1 paper
NM_003235.5
p.G550S
c.1648G>A
1 paper
NM_003235.5
p.A564A
c.1692C>T
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