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.L161V

c.481C>G

Surrounding Variants

12 papers

NM_022445.4

p.S160L

c.479C>T

4 papers

NM_022445.4

p.L164P

c.491T>C

2 papers

NM_022445.4

p.I155_I156del1

c.465_467delATT

1 paper

NM_022445.4

p.Q166H

c.498A>T

1 paper

NM_022445.4

p.Q166H

c.498A>C

1 paper

NM_022445.4

p.I155V

c.463A>G

1 paper

NM_022445.4

p.P167del1

c.499_500delTGG

12 papers

NM_022445.4

p.P167_G168Splc

c.501+4A>T

1 paper

NM_022445.4

p.P152T

c.454C>A

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.L142S

c.425T>C