Varaico: Literature-Extracted Genetic Variants

Gene:PANK4
Variant:p.L265L

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.L265L
c.795C>T
Surrounding Variants
1 paper
NM_018216.4
p.L265P
c.794T>C
1 paper
NM_018216.4
p.G269R
c.805G>C
1 paper
NM_018216.4
p.G269R
c.805G>A
1 paper
NM_018216.4
p.D256H
c.766G>C
1 paper
NM_018216.4
p.T281T
c.843C>T
1 paper
NM_018216.4
p.K233_K234Splc
c.700-1G>C
1 paper
NM_018216.4
p.A227T
c.679G>A
1 paper
NM_018216.4
p.G219V
c.656G>T
1 paper
NM_018216.4
p.G214D
c.641G>A
1 paper
NM_018216.4
p.I299V
c.895A>G
1 paper
NM_018216.4
p.S300T
c.899G>C
1 paper
NM_018216.4
p.S300del1
c.898_899delGCT
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