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

2 papers

NM_022445.4

p.R171delFs

c.513delC

Surrounding Variants

2 papers

NM_022445.4

p.R171S

c.513G>T

2 papers

NM_022445.4

p.R171S

c.513G>C

1 paper

NM_022445.4

p.R171fs

c.511_512fs

1 paper

NM_022445.4

p.H170Y

c.508C>T

2 papers

NM_022445.4

p.P167_G168Splc

c.502-1G>T

1 paper

NM_022445.4

p.E179_W182del4

c.535_545del12

1 paper

NM_022445.4

p.L185I

c.553C>A

1 paper

NM_022445.4

p.G189delFs

c.566delC

1 paper

NM_022445.4

p.P191insFs

c.572_573ins4

5 papers

NM_022445.4

p.C192W

c.576T>G

10 papers

NM_022445.4

p.W202G

c.604T>G