Varaico: Literature-Extracted Genetic Variants

Gene:PANK2
Variant:p.D227G

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
19 papers
NM_001386393.1
p.D227G
c.680A>G
Surrounding Variants
1 paper
NM_024960.6
p.D46V
c.137A>T
2 papers
NM_001386393.1
p.E228_L229del2
c.682_686del6
2 papers
NM_153638.4
p.K335E
c.1003A>G
1 paper
NM_153638.4
p.L339_D340Fs
c.1017_1020delinsGCTTTGCAAATTCGFs
2 papers
NM_001386393.1
p.D230N
c.688G>A
1 paper
NM_001386393.1
p.D230delFs
c.689delA
1 paper
NM_153638.4
p.D340fs
c.1018_1019fs
1 paper
NM_001386393.1
p.D230A
c.689A>C
1 paper
NM_001386393.1
p.C231_K234delFs
c.691_700del10
2 papers
NM_001386393.1
p.C231S
c.691T>A
2 papers
NM_001386393.1
p.C231S
c.692G>C
1 paper
NM_001386393.1
p.C231*
c.693C>A
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