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

1–12 of 88 variants

13 papers

NM_022445.4

p.N219S

c.656A>G

12 papers

NM_022445.4

p.S160L

c.479C>T

12 papers

NM_022445.4

p.P167_G168Splc

c.501+4A>T

11 papers

NM_022445.4

p.L40P

c.119T>C

11 papers

NM_022445.4

p.D222H

c.664G>C

10 papers

NM_022445.4

p.N50H

c.148A>C

10 papers

NM_022445.4

p.W202G

c.604T>G

7 papers

NM_022445.4

p.L28S

c.83T>C

7 papers

NM_022445.4

p.R60_E61delFs

c.179_182del4

7 papers

NM_022445.4

p.L142F

c.426G>C

6 papers

NM_022445.4

p.K86_G87Splc

c.258+1G>A

6 papers

NM_022445.4

p.C104delFs

c.311delC