Varaico: Literature-Extracted Genetic Variants

Gene:PANK2
Variant:p.H198_T199delFs

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.H198_T199delFs
c.594_595delCA
Surrounding Variants
1 paper
NM_001386393.1
p.S196delFs
c.587_588delGT
2 papers
NM_001386393.1
p.V200delFs
c.598_599delGT
1 paper
NM_153638.4
p.T309_F311delFs
c.927_933del7
NM_024960.6
p.T18_F20delFs
c.54_60del7
1 paper
NM_001386393.1
p.S195W
c.584C>G
1 paper
NM_001386393.1
p.S195delFs
c.584_585delCG
1 paper
NM_153638.4
p.F311fs
c.931_932fs
NM_024960.6
p.F20fs
c.58_59fs
2 papers
NM_001386393.1
p.C202*
c.606T>A
1 paper
NM_001386393.1
p.D191delFs
c.573delT
2 papers
NM_153638.4
p.G315_A318del0
c.944_952del9
NM_001386393.1
p.G205_A208del0
c.614_622del9
8 papers
NM_001386393.1
p.R190insFs
c.569_570insA
1 paper
NM_001386393.1
p.R190insFs
c.569dupG
1 paper
NM_001386393.1
p.R190G
c.568A>G
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