Varaico: Literature-Extracted Genetic Variants

TPK1

77 papers

RefSeq Summary

The protein encoded by this gene functions as a homodimer and catalyzes the conversion of thiamine to thiamine pyrophosphate, a cofactor for some enzymes of the glycolytic and energy production pathwa...

Pfam Domains

TPK_catalyticaa 32–130UCSCThiamin pyrophosphokinase, catalytic domain

TPK_B1_bindingaa 120–187UCSCThiamin pyrophosphokinase, vitamin B1 binding domain

Gene Aliases

HGNC Name

thiamin pyrophosphokinase 1

HGNC Alias Symbols

HTPK1; PP20

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_022445.4

p.Y31N

c.91T>A

Surrounding Variants

7 papers

NM_022445.4

p.L28S

c.83T>C

1 paper

NM_022445.4

p.N37Y

c.109A>T

1 paper

NM_022445.4

p.N37insFs

c.110dupA

1 paper

NM_022445.4

p.N16Y

c.46A>T