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

13 papers

NM_022445.4

p.N219S

c.656A>G

Surrounding Variants

11 papers

NM_022445.4

p.D222H

c.664G>C

1 paper

NM_022445.4

p.G223R

c.667G>C

1 paper

NM_022445.4

p.G223R

c.667G>A

1 paper

NM_022445.4

p.T213S

c.637A>T

1 paper

NM_022445.4

p.D207V

c.620A>T

4 papers

NM_022445.4

p.T205Splc

c.614-1G>A

1 paper

NM_022445.4

p.T205S

c.613A>T

1 paper

NM_022445.4

p.L236V

c.706C>G