Varaico: Literature-Extracted Genetic Variants

Gene:PANK3

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
1–12 of 48 variants
3 papers
NM_024594.4
p.I301F
c.901A>T
2 papers
NM_024594.4
p.G19V
c.56G>T
2 papers
NM_024594.4
p.E138A
c.413A>C
2 papers
NM_024594.4
p.G273R
c.817G>C
2 papers
NM_024594.4
p.G273R
c.817G>A
1 paper
NM_024594.4
p.T34A
c.100A>G
1 paper
NM_024594.4
p.T34R
c.101C>G
1 paper
NM_024594.4
p.E38G
c.113A>G
1 paper
NM_024594.4
p.R49P
c.146G>C
1 paper
NM_024594.4
p.R64W
c.190C>T
1 paper
NM_024594.4
p.D65V
c.194A>T
1 paper
NM_024594.4
p.V66V
c.198A>T
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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."