Varaico: Literature-Extracted Genetic Variants

Gene:PANK4
Variant:p.R414W

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
Selected Variant
1 paper
NM_018216.4
p.R414W
c.1240C>T
Surrounding Variants
1 paper
NM_018216.4
p.L415insFs
c.1243_1244ins7
1 paper
NM_018216.4
p.L409F
c.1227G>T
1 paper
NM_018216.4
p.L409F
c.1227G>C
1 paper
NM_018216.4
p.E454K
c.1360G>A
1 paper
NM_018216.4
p.G458_V459Splc
c.1374+11C>T
1 paper
NM_018216.4
p.A463E
c.1388C>A
1 paper
NM_018216.4
p.V471_D472insA
c.1411_1415ins3
1 paper
NM_018216.4
p.A473V
c.1418C>T
1 paper
NM_018216.4
p.E475K
c.1423G>A
1 paper
NM_018216.4
p.R492_Q493insC
c.1474_1478ins3
1 paper
NM_018216.4
p.Q494*
c.1480C>T
1 paper
NM_018216.4
p.V503E
c.1508T>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."