Varaico: Literature-Extracted Genetic Variants

Gene:PANK2

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
1–12 of 606 variants
29 papers
NM_001386393.1
p.G411R
c.1231G>A
19 papers
NM_001386393.1
p.D227G
c.680A>G
18 papers
NM_001386393.1
p.G411R
c.1231G>C
16 papers
NM_001386393.1
p.T418M
c.1253C>T
15 papers
NM_153638.4
p.T528M
c.1583C>T
14 papers
NM_001386393.1
p.D378G
c.1133A>G
11 papers
NM_153638.4
p.G521R
c.1561G>A
11 papers
NM_153638.4
p.G521R
c.1561G>C
9 papers
NM_001386393.1
p.G219V
c.656G>T
9 papers
NM_001386393.1
p.N294I
c.881A>T
8 papers
NM_001386393.1
p.R190insFs
c.569_570insA
8 papers
NM_001386393.1
p.D268G
c.803A>G
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