Varaico: Literature-Extracted Genetic Variants

Gene:PANK2
Variant:p.M182insFs

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
2 papers
NM_001386393.1
p.M182insFs
c.545_546insA
Surrounding Variants
1 paper
NM_001386393.1
p.P183delFs
c.548delC
1 paper
NM_001386393.1
p.A184delFs
c.551delC
2 papers
NM_001386393.1
p.P178H
c.533C>A
1 paper
NM_153638.4
p.P288R
c.863C>G
2 papers
NM_153638.4
p.P288L
c.863C>T
NM_001386393.1
p.P178L
c.533C>T
1 paper
NM_001386393.1
p.P178S
c.532C>T
1 paper
NM_001386393.1
p.R176G
c.526C>G
5 papers
NM_153638.4
p.R286C
c.856C>T
NM_001386393.1
p.R176C
c.526C>T
1 paper
NM_001386393.1
p.I175delFs
c.524delT
1 paper
NM_001386393.1
p.R190insFs
c.569dupG
1 paper
NM_001386393.1
p.R190G
c.568A>G
2 papers
NM_153638.4
p.F284L
c.852T>A
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