Varaico: Literature-Extracted Genetic Variants

Gene:PANK2
Variant:p.D220delFs

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.D220delFs
c.660delT
Surrounding Variants
1 paper
NM_001386393.1
p.D220delFs
c.659_660delAT
1 paper
NM_001386393.1
p.L221delFs
c.662_663delTT
9 papers
NM_001386393.1
p.G219V
c.656G>T
1 paper
NM_001386393.1
p.G219delFs
c.657delT
3 papers
NM_001386393.1
p.G219S
c.655G>A
2 papers
NM_001386393.1
p.G219R
c.655G>C
1 paper
NM_153638.4
p.Q332*
c.994C>T
1 paper
NM_001386393.1
p.Q222R
c.665A>G
1 paper
NM_001386393.1
p.I218delFs
c.654delA
3 papers
NM_153638.4
p.T327_I328Splc
c.982-1G>A
NM_001386393.1
p.T217_I218Splc
c.652-1G>A
4 papers
NM_001386393.1
p.T217_I218Splc
c.652-1G>C
NM_153638.4
p.T327_I328Splc
c.982-1G>C
2 papers
NM_153638.4
p.K335E
c.1003A>G
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