Varaico: Literature-Extracted Genetic Variants

Gene:PANK2
Variant:p.S259delFs

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_001386393.1
p.S259delFs
c.777delT
Surrounding Variants
2 papers
NM_153638.4
p.D368G
c.1103A>G
1 paper
NM_153638.4
p.K371_C372del1
c.1112_1114delAGT
1 paper
NM_001386393.1
p.A257S
c.769G>T
4 papers
NM_001386393.1
p.N255S
c.764A>G
1 paper
NM_001386393.1
p.K264delFs
c.792delG
1 paper
NM_001386393.1
p.E254delFs
c.760delG
1 paper
NM_001386393.1
p.F253insFs
c.758_759insAG
1 paper
NM_001386393.1
p.P266S
c.796C>T
1 paper
NM_001386393.1
p.P266L
c.797C>T
NM_153638.4
p.P376L
c.1127C>T
2 papers
NM_001386393.1
p.Y251C
c.752A>G
3 papers
NM_153638.4
p.F377S
c.1130T>C
1 paper
NM_001386393.1
p.Y251H
c.751T>C
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