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.V54L

c.160G>T

Surrounding Variants

1 paper

NM_024664.4

p.V54L

c.160G>C

1 paper

NM_024664.4

p.T68A

c.202A>G

1 paper

NM_024664.4

p.S69*

c.206C>A

1 paper

NM_024664.4

p.V38_P48del0

c.114_143del30

2 papers

NM_024664.4

p.A70P

c.208G>C

1 paper

NM_024664.4

p.G34D

c.101G>A

1 paper

NM_024664.4

p.Y78H

c.232T>C

1 paper

NM_024664.4

p.Y78C

c.233A>G

1 paper

NM_024664.4

p.R25C

c.73C>T

1 paper

NM_024664.4

p.M23K

c.68T>A

1 paper

NM_024664.4

p.E21Q

c.61G>C

1 paper

NM_024664.4

p.A20G

c.59C>G