Varaico: Literature-Extracted Genetic Variants

Gene:PANK2
Variant:p.T151delFs

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.T151delFs
c.451delA
Surrounding Variants
1 paper
NM_001386393.1
p.S150P
c.448T>C
1 paper
NM_001386393.1
p.T151T
c.453A>T
1 paper
NM_153638.4
p.G262R
c.784G>C
1 paper
NM_001386393.1
p.G149_S150delFs
c.447_448delGT
3 papers
NM_001386393.1
p.G149W
c.445G>T
1 paper
NM_001386393.1
p.G149del1
c.445_447delGGG
2 papers
NM_001386393.1
p.I153F
c.457A>T
1 paper
NM_001386393.1
p.Y148_G149delFs
c.442_446del5
2 papers
NM_001386393.1
p.A147insFs
c.440_441insCT
6 papers
NM_153638.4
p.R264W
c.790C>T
NM_001386393.1
p.R154W
c.460C>T
2 papers
NM_001386393.1
p.R154Q
c.461G>A
NM_153638.4
p.R264Q
c.791G>A
1 paper
NM_001386393.1
p.A147ins1
c.440_441insCTC
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