Varaico: Literature-Extracted Genetic Variants

Gene:PANK2
Variant:p.N404I

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
13 papers
NM_153638.4
p.N404I
c.1211A>T
NM_001386393.1
p.N294I
c.881A>T
Surrounding Variants
1 paper
NM_153638.4
p.Y405D
c.1213T>G
1 paper
NM_153638.4
p.D403V
c.1208A>T
1 paper
NM_001386393.1
p.Y295*
c.885C>G
1 paper
NM_153638.4
p.K406I
c.1217A>T
1 paper
NM_001386393.1
p.R297R
c.889C>A
1 paper
NM_001386393.1
p.S291S
c.873C>G
1 paper
NM_001386393.1
p.V298D
c.893T>A
3 papers
NM_001386393.1
p.A288G
c.863C>G
4 papers
NM_001386393.1
p.A288V
c.863C>T
1 paper
NM_001386393.1
p.A288T
c.862G>A
2 papers
NM_153638.4
p.S412Splc
c.1235+1G>T
NM_001386393.1
p.S302Splc
c.905+1G>T
1 paper
NM_153638.4
p.S412Splc
c.1235+5G>A
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