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

1–12 of 48 variants

5 papers

NM_024664.4

p.P107_L112del0

c.320_334del15

5 papers

NM_024664.4

p.A180P

c.538G>C

5 papers

NM_024664.4

p.E233V

c.698A>T

4 papers

NM_024664.4

p.S113L

c.338C>T

3 papers

NM_024664.4

p.Q204_I205Splc

c.613-3C>G

2 papers

NM_024664.4

p.A70P

c.208G>C

2 papers

NM_024664.4

p.R133W

c.397A>T

2 papers

NM_024664.4

p.A139V

c.416C>T

1 paper

NM_024664.4

p.M1L

c.1A>C

1 paper

NM_024664.4

p.M1L

c.1A>T

1 paper

NM_024664.4

p.E3A

c.8A>C

1 paper

NM_024664.4

p.G15C

c.43G>T