Varaico: Literature-Extracted Genetic Variants

Gene:PANK2
Variant:p.H267P

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_153638.4
p.H267P
c.800A>C
Surrounding Variants
1 paper
NM_001386393.1
p.H157R
c.470A>G
1 paper
NM_001386393.1
p.L158delFs
c.473delT
2 papers
NM_001386393.1
p.H157_D162insFs
c.469_484dup16
1 paper
NM_001386393.1
p.E159delFs
c.476delA
3 papers
NM_001386393.1
p.D155insFs
c.464_465insC
1 paper
NM_001386393.1
p.D155Y
c.463G>T
1 paper
NM_001386393.1
p.K161_L163del3
c.481_488del9
1 paper
NM_001386393.1
p.R154_D155insFs
c.462_463insC
2 papers
NM_001386393.1
p.R154Q
c.461G>A
NM_153638.4
p.R264Q
c.791G>A
2 papers
NM_153638.4
p.L270P
c.809T>C
2 papers
NM_001386393.1
p.L160R
c.479T>G
6 papers
NM_153638.4
p.R264W
c.790C>T
NM_001386393.1
p.R154W
c.460C>T
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