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

6 papers

NM_022445.4

p.C104delFs

c.311delC

Surrounding Variants

1 paper

NM_022445.4

p.C104Y

c.311G>A

1 paper

NM_022445.4

p.M107I

c.321G>T

1 paper

NM_022445.4

p.M107I

c.321G>C

1 paper

NM_022445.4

p.M107I

c.321G>A

1 paper

NM_022445.4

p.D100A

c.299A>C

1 paper

NM_022445.4

p.D100N

c.298G>A

1 paper

NM_022445.4

p.K111M

c.332A>T

1 paper

NM_022445.4

p.E113K

c.337G>A

1 paper

NM_022445.4

p.Q96E

c.286C>G

5 papers

NM_022445.4

p.C88Y

c.263G>A