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.L278delFs

c.832_833delTT

Surrounding Variants

1 paper

NM_024664.4

p.L280V

c.838C>G

2 papers

NM_001287506.1

p.L107_I112del0

c.320_334del15

1 paper

NM_024664.4

p.T271N

c.812C>A

1 paper

NM_024664.4

p.Q264H

c.792G>C

1 paper

NM_024664.4

p.Q264H

c.792G>T

1 paper

NM_024664.4

p.Q253H

c.759A>C

1 paper

NM_024664.4

p.Q253H

c.759A>T

1 paper

NM_024664.4

p.A243P

c.727G>C

5 papers

NM_024664.4

p.E233V

c.698A>T

1 paper

NM_024664.4

p.V210A

c.629T>C

1 paper

NM_024664.4

p.M209T

c.626T>C

3 papers

NM_024664.4

p.Q204_I205Splc

c.613-3C>G