Varaico: Literature-Extracted Genetic Variants

Gene:PANK4
Variant:p.Q684R

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
6 papers
NM_018216.4
p.Q684R
c.2051A>G
Surrounding Variants
2 papers
NM_018216.4
p.Q692R
c.2075A>G
1 paper
NM_018216.4
p.A669T
c.2005G>A
1 paper
NM_018216.4
p.V668M
c.2002G>A
1 paper
NM_018216.4
p.V660M
c.1978G>A
1 paper
NM_018216.4
p.D659A
c.1976A>C
1 paper
NM_018216.4
p.P655S
c.1963C>T
1 paper
NM_018216.4
p.D623A
c.1868A>C
1 paper
NM_018216.4
p.D706N
c.2116G>A
1 paper
NM_018216.4
p.R728H
c.2183G>A
1 paper
NM_018216.4
p.A736P
c.2206G>C
2 papers
NM_018216.4
p.E605K
c.1813G>A
1 paper
NM_018216.4
p.E595_R596insCT
c.1783_1787ins6
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."