Varaico: Literature-Extracted Genetic Variants

Gene:PANK2
Variant:p.E442_H443delFs

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.E442_H443delFs
c.1325_1328del4
Surrounding Variants
1 paper
NM_001386393.1
p.E442*
c.1324G>T
2 papers
NM_001386393.1
p.E442G
c.1325A>G
3 papers
NM_001386393.1
p.S441_E442delFs
c.1323_1326del4
2 papers
NM_153638.4
p.E554K
c.1660G>A
2 papers
NM_001386393.1
p.F440_S441insCT
c.1318_1322ins6
1 paper
NM_001386393.1
p.K437R
c.1310A>G
1 paper
NM_153638.4
p.Q545_L546insA
c.1633_1637ins3
1 paper
NM_001386393.1
p.D429H
c.1285G>C
4 papers
NM_153638.4
p.Y536C
c.1607A>G
2 papers
NM_001386393.1
p.L424F
c.1272G>C
2 papers
NM_001386393.1
p.L424F
c.1272G>T
3 papers
NM_001386393.1
p.A425del1
c.1273_1275delGCA
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