Varaico: Literature-Extracted Genetic Variants

Gene:PANK2
Variant:p.K335E

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_153638.4
p.K335E
c.1003A>G
Surrounding Variants
19 papers
NM_001386393.1
p.D227G
c.680A>G
1 paper
NM_024960.6
p.D46V
c.137A>T
1 paper
NM_001386393.1
p.Q222R
c.665A>G
2 papers
NM_001386393.1
p.E228_L229del2
c.682_686del6
1 paper
NM_153638.4
p.Q332*
c.994C>T
1 paper
NM_001386393.1
p.L221delFs
c.662_663delTT
1 paper
NM_153638.4
p.L339_D340Fs
c.1017_1020delinsGCTTTGCAAATTCGFs
1 paper
NM_001386393.1
p.D220delFs
c.660delT
2 papers
NM_001386393.1
p.D230N
c.688G>A
1 paper
NM_001386393.1
p.D230delFs
c.689delA
1 paper
NM_001386393.1
p.D220delFs
c.659_660delAT
1 paper
NM_153638.4
p.D340fs
c.1018_1019fs
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