Varaico: Literature-Extracted Genetic Variants

Gene:PANK2
Variant:p.R481P

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.R481P
c.1442G>C
Surrounding Variants
2 papers
NM_153638.4
p.R481Q
c.1442G>A
NM_001386393.1
p.R371Q
c.1112G>A
3 papers
NM_153638.4
p.R481*
c.1441C>T
NM_001386393.1
p.R371*
c.1111C>T
1 paper
NM_153638.4
p.R481fs
c.1441_1442fs
2 papers
NM_153638.4
p.R481_E482del1
c.1442_1444delGAG
NM_001386393.1
p.R371_E372del1
c.1112_1114delGAG
1 paper
NM_001386393.1
p.E369A
c.1106A>C
2 papers
NM_001386393.1
p.K368R
c.1103A>G
2 papers
NM_001386393.1
p.K368insFs
c.1103_1104insGA
1 paper
NM_153638.4
p.K478E
c.1432A>G
1 paper
NM_001386393.1
p.K376_T388del13
c.1126_1163del39
1 paper
NM_153638.4
p.M476fs
c.1426_1427fs
2 papers
NM_153638.4
p.M476_S477delFs
c.1426_1429del4
1 paper
NM_153638.4
p.M475T
c.1424T>C
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