Varaico: Literature-Extracted Genetic Variants

Gene:PANK2
Variant:p.D240_S241del2

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.D240_S241del2
c.718_722del6
Surrounding Variants
1 paper
NM_001386393.1
p.Y238_I239del1
c.714_716delCAT
2 papers
NM_001386393.1
p.S241P
c.721T>C
1 paper
NM_001386393.1
p.V242V
c.726C>G
1 paper
NM_001386393.1
p.I236T
c.707T>C
1 paper
NM_001386393.1
p.F244S
c.731T>C
2 papers
NM_001386393.1
p.N245insFs
c.735dupT
2 papers
NM_001386393.1
p.K234Q
c.700A>C
6 papers
NM_001386393.1
p.N245S
c.734A>G
1 paper
NM_001386393.1
p.K234E
c.700A>G
2 papers
NM_001386393.1
p.K234*
c.700A>T
1 paper
NM_001386393.1
p.R247delFs
c.739delC
6 papers
NM_153638.4
p.R357W
c.1069C>T
NM_001386393.1
p.R247W
c.739C>T
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