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.T56S

c.167C>G

Surrounding Variants

2 papers

NM_022445.4

p.T56I

c.167C>T

1 paper

NM_022445.4

p.E57K

c.169G>A

1 paper

NM_022445.4

p.E57delFs

c.169delC

1 paper

NM_022445.4

p.D54G

c.161A>G

1 paper

NM_022445.4

p.D54Y

c.160G>T

1 paper

NM_022445.4

p.Y53H

c.157T>C

1 paper

NM_022445.4

p.R60fs

c.178_179fs

1 paper

NM_022445.4

p.R51L

c.152G>T

1 paper

NM_022445.4

p.R51H

c.152G>A

7 papers

NM_022445.4

p.R60_E61delFs

c.179_182del4

1 paper

NM_022445.4

p.S62Splc

c.185+1G>A

10 papers

NM_022445.4

p.N50H

c.148A>C