Varaico: Literature-Extracted Genetic Variants

Gene:TG
Variant:p.C1543S

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.C1543S
c.4627T>A
Surrounding Variants
1 paper
NM_003235.5
p.F1542F
c.4626C>T
1 paper
NM_003235.5
p.C1543S
c.4628G>C
1 paper
NM_003235.5
p.C1543*
c.4629T>A
1 paper
NM_003235.5
p.F1542V
c.4624T>G
1 paper
NM_003235.5
p.F1542fs
c.4624_4625fs
1 paper
NM_003235.5
p.A1541_F1542insFs
c.4623_4624insG
1 paper
NM_003235.5
p.K1540N
c.4620G>T
1 paper
NM_003235.5
p.E1547D
c.4641G>T
1 paper
NM_003235.5
p.G1548W
c.4642G>T
1 paper
NM_003235.5
p.G1537D
c.4610G>A
1 paper
NM_003235.5
p.R1536S
c.4608G>T
1 paper
NM_003235.5
p.R1536M
c.4607G>T
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