Varaico: Literature-Extracted Genetic Variants

Gene:PANK2
Variant:p.N145insFs

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.N145insFs
c.434dupA
Surrounding Variants
1 paper
NM_001386393.1
p.V146insFs
c.437dupT
1 paper
NM_001386393.1
p.V146E
c.437T>A
1 paper
NM_001386393.1
p.A147_Y148insFs
c.439_442dup4
1 paper
NM_001386393.1
p.A147ins1
c.440_441insCTC
2 papers
NM_001386393.1
p.A147insFs
c.440_441insCT
1 paper
NM_001386393.1
p.Y141Y
c.423C>T
1 paper
NM_001386393.1
p.Y148_G149delFs
c.442_446del5
1 paper
NM_001386393.1
p.G149del1
c.445_447delGGG
3 papers
NM_001386393.1
p.G149W
c.445G>T
1 paper
NM_001386393.1
p.G149_S150delFs
c.447_448delGT
1 paper
NM_001386393.1
p.R139P
c.416G>C
1 paper
NM_001386393.1
p.S150P
c.448T>C
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