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.K86_G87Splc

c.258+1G>A

Surrounding Variants

1 paper

NM_022445.4

p.Y82*

c.246C>G

1 paper

NM_022445.4

p.Y82*

c.246C>A

1 paper

NM_022445.4

p.E81Q

c.241G>C

1 paper

NM_022445.4

p.V79D

c.236T>A

5 papers

NM_022445.4

p.R76G

c.226A>G

2 papers

NM_022445.4

p.I75N

c.224T>A

1 paper

NM_022445.4

p.D71G

c.212A>G

2 papers

NM_022445.4

p.L64F

c.192G>T

2 papers

NM_022445.4

p.L64F

c.192G>C