Varaico: Literature-Extracted Genetic Variants

Gene:TG
Variant:p.R1081R

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
27 papers
NM_003235.5
p.R1081R
c.3243A>G
Surrounding Variants
1 paper
NM_003235.5
p.R1081R
c.3243A>T
1 paper
NM_003235.5
p.R1081Q
c.3242G>A
1 paper
NM_003235.5
p.R1081*
c.3241C>T
1 paper
NM_003235.5
p.R1081delFs
c.3241_3242delCG
1 paper
NM_003235.5
p.E1078A
c.3233A>C
1 paper
NM_003235.5
p.C1077*
c.3231C>A
1 paper
NM_003235.5
p.L1085L
c.3255G>A
3 papers
NM_003235.5
p.L1086F
c.3256C>T
10 papers
NM_003235.5
p.C1077R
c.3229T>C
1 paper
NM_003235.5
p.S1088R
c.3264T>A
1 paper
NM_003235.5
p.W1089*
c.3266G>A
1 paper
NM_003235.5
p.W1089*
c.3267G>A
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