Varaico: Literature-Extracted Genetic Variants

Gene:PANK2
Variant:p.I218L

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
1 paper
NM_153638.4
p.I218L
c.652A>C
Surrounding Variants
1 paper
NM_001386393.1
p.I108delFs
c.322delA
3 papers
NM_153638.4
p.D217G
c.650A>G
4 papers
NM_153638.4
p.G219S
c.655G>A
2 papers
NM_001386393.1
p.G109V
c.326G>T
1 paper
NM_001386393.1
p.D107delFs
c.319delG
1 paper
NM_001386393.1
p.G110R
c.328G>A
1 paper
NM_001386393.1
p.G110R
c.328G>C
1 paper
NM_001386393.1
p.L106delFs
c.316_317delCT
1 paper
NM_001386393.1
p.L106_T111del6
c.316_332del18
1 paper
NM_001386393.1
p.G105E
c.314G>A
2 papers
NM_153638.4
p.G215_L216insA
c.643_647ins3
1 paper
NM_001386393.1
p.V113del1
c.337_339delGTC
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."