Varaico: Literature-Extracted Genetic Variants

Gene:PANK3
Variant:p.E138V

PANK3

28 papers

RefSeq Summary

This gene encodes a protein belonging to the pantothenate kinase family. Pantothenate kinase is a key regulatory enzyme in the biosynthesis of coenzyme A (CoA) in bacteria and mammalian cells. It cata...

Pfam Domains

Fumbleaa 13–365UCSCFumble

Gene Aliases

HGNC Name

pantothenate kinase 3

HGNC Alias Symbol

FLJ12899

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024594.4
p.E138V
c.413A>T
Surrounding Variants
2 papers
NM_024594.4
p.E138A
c.413A>C
1 paper
NM_024594.4
p.S151P
c.451T>C
1 paper
NM_024594.4
p.N155S
c.464A>G
1 paper
NM_024594.4
p.E159K
c.475G>A
1 paper
NM_024594.4
p.I190insFs
c.569_570insA
1 paper
NM_024594.4
p.G191delFs
c.573delG
1 paper
NM_024594.4
p.A198T
c.592G>A
1 paper
NM_024594.4
p.N204I
c.611A>T
1 paper
NM_024594.4
p.L213P
c.638T>C
1 paper
NM_024594.4
p.C228Y
c.683G>A
1 paper
NM_024594.4
p.D247N
c.739G>A
1 paper
NM_024594.4
p.R251H
c.752G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."