Varaico: Literature-Extracted Genetic Variants

Gene:PANK2
Variant:p.P102L

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
1 paper
NM_001386393.1
p.P102L
c.305C>T
Surrounding Variants
1 paper
NM_001386393.1
p.P102insFs
c.305dupC
1 paper
NM_001386393.1
p.F101_P102del2
c.301_305del6
1 paper
NM_001386393.1
p.L100P
c.299T>C
1 paper
NM_153638.4
p.L210fs
c.628_629fs
6 papers
NM_153638.4
p.L210Splc
c.629-2A>T
NM_001386393.1
p.L100Splc
c.299-2A>T
2 papers
NM_153638.4
p.G215_L216insA
c.643_647ins3
1 paper
NM_001386393.1
p.G105E
c.314G>A
3 papers
NM_153638.4
p.L210_K224delFs
c.629_672del44
1 paper
NM_001386393.1
p.L106delFs
c.316_317delCT
1 paper
NM_001386393.1
p.L106_T111del6
c.316_332del18
1 paper
NM_001386393.1
p.D107delFs
c.319delG
3 papers
NM_153638.4
p.D217G
c.650A>G
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