Varaico: Literature-Extracted Genetic Variants

Gene:PANK2
Variant:p.K136insFs

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.K136insFs
c.408dupA
Surrounding Variants
1 paper
NM_001386393.1
p.S137delFs
c.409delA
1 paper
NM_001386393.1
p.L135_S137delFs
c.405_409del5
1 paper
NM_001386393.1
p.K136T
c.407A>C
1 paper
NM_153638.4
p.L245insFs
c.734dupT
1 paper
NM_001386393.1
p.S137_R139del0
c.411_416del6
1 paper
NM_001386393.1
p.S134T
c.401G>C
1 paper
NM_001386393.1
p.S134_K136delFs
c.402_406del5
1 paper
NM_001386393.1
p.S134G
c.400A>G
1 paper
NM_153638.4
p.S247T
c.740G>C
1 paper
NM_001386393.1
p.S137insFs
c.411dupC
1 paper
NM_001386393.1
p.I138insFs
c.412_413insT
1 paper
NM_001386393.1
p.E133V
c.398A>T
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