Varaico: Literature-Extracted Genetic Variants

Gene:PANK3
Variant:p.R316T

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.R316T
c.947G>C
Surrounding Variants
1 paper
NM_024594.4
p.G321R
c.961G>C
1 paper
NM_024594.4
p.G321R
c.961G>A
1 paper
NM_024594.4
p.F350L
c.1048T>C
1 paper
NM_024594.4
p.F350L
c.1050T>G
1 paper
NM_024594.4
p.F350L
c.1050T>A
1 paper
NM_024594.4
p.L363P
c.1088T>C
1 paper
NM_024594.4
p.N311D
c.931A>G
1 paper
NM_024594.4
p.A309V
c.926C>T
1 paper
NM_024594.4
p.I301T
c.902T>C
3 papers
NM_024594.4
p.I301F
c.901A>T
1 paper
NM_024594.4
p.N300I
c.899A>T
1 paper
NM_024594.4
p.I297T
c.890T>C
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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."