Varaico: Literature-Extracted Genetic Variants

Gene:PANK2
Variant:p.I138M

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.I138M
c.414T>G
Surrounding Variants
1 paper
NM_153638.4
p.R249insFs
c.747dupG
1 paper
NM_153638.4
p.R249fs
c.745_746fs
1 paper
NM_001386393.1
p.I138_K140del0
c.414_419del6
1 paper
NM_001386393.1
p.I138insFs
c.412_413insT
1 paper
NM_001386393.1
p.R139P
c.416G>C
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.S137_R139del0
c.411_416del6
1 paper
NM_001386393.1
p.K136T
c.407A>C
1 paper
NM_001386393.1
p.Y141Y
c.423C>T
1 paper
NM_001386393.1
p.K136insFs
c.408dupA
1 paper
NM_001386393.1
p.S137delFs
c.409delA
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