Varaico: Literature-Extracted Genetic Variants

PPCDC

19 papers

RefSeq Summary

Biosynthesis of coenzyme A (CoA) from pantothenic acid (vitamin B5) is an essential universal pathway in prokaryotes and eukaryotes. PPCDC (EC 4.1.1.36), one of the last enzymes in this pathway, conve...

Pfam Domains

Flavoproteinaa 1–72UCSCFlavoprotein

Flavoproteinaa 42–120UCSCFlavoprotein

Flavoproteinaa 64–152UCSCFlavoprotein

Gene Aliases

HGNC Name

phosphopantothenoylcysteine decarboxylase

HGNC Alias Symbols

MDS018; FLJ14585

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_021823.5

p.I78M

c.234A>G

Surrounding Variants

1 paper

NM_021823.5

p.I78I

c.234A>T

1 paper

NM_021823.5

p.V86L

c.256G>C

2 papers

NM_021823.5

p.A95V

c.284C>T

1 paper

NM_021823.5

p.S113R

c.337A>C

1 paper

NM_021823.5

p.S113R

c.339T>A

1 paper

NM_021823.5

p.S113R

c.339T>G

1 paper

NM_021823.5

p.A73V

c.218C>T

2 papers

NM_021823.5

p.T53P

c.157A>C

1 paper

NM_021823.5

p.P137L

c.410C>T

1 paper

NM_021823.5

p.E145V

c.434A>T

1 paper

NM_021823.5

p.H146Q

c.438C>A

1 paper

NM_021823.5

p.H146Q

c.438C>G