Varaico: Literature-Extracted Genetic Variants

Gene:PANK2
Variant:p.F519L

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
3 papers
NM_153638.4
p.F519L
c.1555T>C
Surrounding Variants
2 papers
NM_153638.4
p.F519L
c.1557T>A
2 papers
NM_153638.4
p.F519L
c.1557T>G
1 paper
NM_001386393.1
p.G411_I416del6
c.1231_1247del18
42 papers
NM_001386393.1
p.G411R
c.1231G>A
NM_153638.4
p.G521R
c.1561G>A
NM_001324191.2
p.G230R
c.688G>A
30 papers
NM_001386393.1
p.G411R
c.1231G>C
NM_153638.4
p.G521R
c.1561G>C
NM_024960.6
p.G230R
c.688G>C
1 paper
NM_001386393.1
p.G411G
c.1233A>G
2 papers
NM_001386393.1
p.Q406L
c.1217A>T
1 paper
NM_001386393.1
p.N412Y
c.1234A>T
1 paper
NM_001386393.1
p.L414_I419del6
c.1240_1256del18
3 papers
NM_001386393.1
p.F413S
c.1238T>C
1 paper
NM_001386393.1
p.N405_F409del5
c.1213_1226del15
4 papers
NM_001386393.1
p.N403I
c.1208A>T
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