Varaico: Literature-Extracted Genetic Variants

Gene:PANK2
Variant:p.E322D

PANK2

395 papers

RefSeq Summary

This gene encodes a protein belonging to the pantothenate kinase family and is the only member of that family to be expressed in mitochondria. Pantothenate kinase is a key regulatory enzyme in the bio...

Pfam Domains

Fumbleaa 213–565UCSCFumble

Gene Aliases

HGNC Name

pantothenate kinase 2

HGNC Previous Symbols

C20orf48; NBIA1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_153638.4
p.E322D
c.966G>T
NM_001386393.1
p.E212D
c.636G>T
Surrounding Variants
2 papers
NM_153638.4
p.E322D
c.966G>C
NM_001386393.1
p.E212D
c.636G>C
5 papers
NM_153638.4
p.E322G
c.965A>G
NM_001386393.1
p.E212G
c.635A>G
1 paper
NM_001386393.1
p.Q213*
c.637C>T
2 papers
NM_153638.4
p.D324Y
c.970G>T
NM_001386393.1
p.D214Y
c.640G>T
1 paper
NM_001386393.1
p.E212_F215del4
c.634_644del12
4 papers
NM_001386393.1
p.F215_L216insA
c.643_647ins3
1 paper
NM_001386393.1
p.K210delFs
c.629delA
1 paper
NM_001386393.1
p.L216fs
c.646_647fs
1 paper
NM_001386393.1
p.L216F
c.646C>T
1 paper
NM_001386393.1
p.Y209delFs
c.626delA
1 paper
NM_001386393.1
p.A208E
c.623C>A
5 papers
NM_001386393.1
p.T217I
c.650C>T
NM_153638.4
p.T327I
c.980C>T
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