Varaico: Literature-Extracted Genetic Variants

Gene:PANK2
Variant:p.E119insFs

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.E119insFs
c.356dupA
Surrounding Variants
1 paper
NM_001386393.1
p.P120insFs
c.359dupC
1 paper
NM_153638.4
p.F228S
c.683T>C
5 papers
NM_153638.4
p.Y227C
c.680A>G
1 paper
NM_001386393.1
p.Y117N
c.349T>A
3 papers
NM_153638.4
p.V226I
c.676G>A
1 paper
NM_001386393.1
p.L115L
c.345G>A
1 paper
NM_153638.4
p.I233N
c.698T>A
1 paper
NM_001386393.1
p.K114M
c.341A>T
1 paper
NM_153638.4
p.T234P
c.700A>C
6 papers
NM_001386393.1
p.T124A
c.370A>G
1 paper
NM_001386393.1
p.V113F
c.337G>T
1 paper
NM_001386393.1
p.V113del1
c.337_339delGTC
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