Varaico: Literature-Extracted Genetic Variants

PPCS

45 papers

RefSeq Summary

Biosynthesis of coenzyme A (CoA) from pantothenic acid (vitamin B5) is an essential universal pathway in prokaryotes and eukaryotes. PPCS (EC 6.3.2.5), one of the last enzymes in this pathway, convert...

Pfam Domains

DFPaa 32–92UCSCDNA/pantothenate metabolism flavoprotein C-terminal domain

DFPaa 146–299UCSCDNA/pantothenate metabolism flavoprotein C-terminal domain

Gene Aliases

HGNC Name

phosphopantothenoylcysteine synthetase

HGNC Alias Symbol

FLJ11838

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_024664.4

p.Q160*

c.478C>T

Surrounding Variants

1 paper

NM_024664.4

p.A161T

c.481G>A

1 paper

NM_024664.4

p.T143S

c.428C>G

1 paper

NM_024664.4

p.T143S

c.427A>T

2 papers

NM_024664.4

p.A139V

c.416C>T

2 papers

NM_024664.4

p.R133W

c.397A>T

1 paper

NM_024664.4

p.E130A

c.389A>C

1 paper

NM_024664.4

p.E121*

c.361G>T

4 papers

NM_024664.4

p.S113L

c.338C>T

1 paper

NM_024664.4

p.G109S

c.325G>A

1 paper

NM_024664.4

p.S108*

c.323C>A

5 papers

NM_024664.4

p.P107_L112del0

c.320_334del15

1 paper

NM_024664.4

p.R106P

c.317G>C