Varaico: Literature-Extracted Genetic Variants

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.P915S

c.2743C>T

Surrounding Variants

1 paper

NM_003235.5

p.P915fs

c.2743_2744fs

1 paper

NM_003235.5

p.P915_S916delFs

c.2744_2748del5

2 papers

NM_003235.5

p.R912delFs

c.2736delG

1 paper

NM_003235.5

p.L918delFs

c.2754delC

1 paper

NM_003235.5

p.M911insFs

c.2732_2733insT

1 paper

NM_003235.5

p.C921Splc

c.2761+1G>T

1 paper

NM_003235.5

p.E907G

c.2720A>G

1 paper

NM_003235.5

p.C898*

c.2694C>A

1 paper

NM_003235.5

p.N897T

c.2690A>C

1 paper

NM_003235.5

p.N897S

c.2690A>G

1 paper

NM_003235.5

p.N897I

c.2690A>T

4 papers

NM_003235.5

p.R896Q

c.2687G>A