Varaico: Literature-Extracted Genetic Variants

Gene:PANK4
Variant:p.A547V

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
7 papers
NM_018216.4
p.A547V
c.1640C>T
Surrounding Variants
1 paper
NM_018216.4
p.W550L
c.1649G>T
1 paper
NM_018216.4
p.E551V
c.1652A>T
1 paper
NM_018216.4
p.R553W
c.1657C>T
1 paper
NM_018216.4
p.V541A
c.1622T>C
1 paper
NM_018216.4
p.W569_G570insA
c.1705_1709ins3
1 paper
NM_018216.4
p.V574M
c.1720G>A
1 paper
NM_018216.4
p.P522S
c.1564C>T
1 paper
NM_018216.4
p.N518T
c.1553A>C
1 paper
NM_018216.4
p.V503E
c.1508T>A
1 paper
NM_018216.4
p.A576Splc
c.1728-2A>G
1 paper
NM_018216.4
p.D581A
c.1742A>C
1 paper
NM_018216.4
p.E595_R596insCT
c.1783_1787ins6
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