Varaico: Literature-Extracted Genetic Variants

Gene:PANK4

PANK4

81 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 36–367UCSCFumble
ARMT1-like_domaa 450–764UCSCDamage-control phosphatase ARMT1-like domain

Gene Aliases

HGNC Name

pantothenate kinase 4 (inactive)

HGNC Alias Symbol

FLJ10782

Papers
RefSeq ID
Protein change
DNA change
1–12 of 85 variants
7 papers
NM_018216.4
p.A547V
c.1640C>T
6 papers
NM_018216.4
p.Q684R
c.2051A>G
2 papers
NM_018216.4
p.G10R
c.28G>A
2 papers
NM_018216.4
p.A38T
c.112G>A
2 papers
NM_018216.4
p.T335A
c.1003A>G
2 papers
NM_018216.4
p.E395V
c.1184A>T
2 papers
NM_018216.4
p.T406A
c.1216A>G
2 papers
NM_018216.4
p.E605K
c.1813G>A
2 papers
NM_018216.4
p.Q692R
c.2075A>G
1 paper
NM_018216.4
p.G5_A6insG
c.13_17ins3
1 paper
NM_018216.4
p.G10R
c.28G>C
1 paper
NM_018216.4
p.G13V
c.38G>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."