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.L142S

c.425T>C

Surrounding Variants

5 papers

NM_022445.4

p.L142F

c.426G>T

7 papers

NM_022445.4

p.L142F

c.426G>C

1 paper

NM_022445.4

p.Q134H

c.402G>T

1 paper

NM_022445.4

p.Q134H

c.402G>C

1 paper

NM_022445.4

p.P152T

c.454C>A

4 papers

NM_022445.4

p.F132S

c.395T>C

1 paper

NM_022445.4

p.I155V

c.463A>G

5 papers

NM_022445.4

p.L128F

c.382C>T

2 papers

NM_022445.4

p.I155_I156del1

c.465_467delATT

12 papers

NM_022445.4

p.S160L

c.479C>T

1 paper

NM_022445.4

p.T124I

c.371C>T

1 paper

NM_022445.4

p.L161V

c.481C>G