Varaico: Literature-Extracted Genetic Variants

Gene:TG
Variant:p.V80M

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.V80M
c.238G>A
Surrounding Variants
8 papers
NM_003235.5
p.V80L
c.238G>C
1 paper
NM_003235.5
p.V80L
c.238G>T
2 papers
NM_003235.5
p.E79E
c.237A>G
1 paper
NM_003235.5
p.V80G
c.239T>G
1 paper
NM_003235.5
p.E79G
c.236A>G
1 paper
NM_003235.5
p.E79V
c.236A>T
1 paper
NM_003235.5
p.L81M
c.241C>A
1 paper
NM_003235.5
p.E79Q
c.235G>C
1 paper
NM_003235.5
p.S78N
c.233G>A
1 paper
NM_003235.5
p.S78T
c.233G>C
1 paper
NM_003235.5
p.S78C
c.232A>T
1 paper
NM_003235.5
p.S78delFs
c.233delG
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