Varaico: Literature-Extracted Genetic Variants

Gene:PANK2
Variant:p.I497T

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.I387T
c.1160T>C
Surrounding Variants
1 paper
NM_001386393.1
p.I387insFs
c.1160_1161insG
3 papers
NM_001386393.1
p.I387_T388insFs
c.1161_1162insG
1 paper
NM_001386393.1
p.I385insFs
c.1154_1155insT
1 paper
NM_001386393.1
p.I385insFs
c.1154_1155insTT
1 paper
NM_001386393.1
p.N390D
c.1168A>G
4 papers
NM_001386393.1
p.N390Y
c.1168A>T
2 papers
NM_153638.4
p.N500_I501delFs
c.1500_1501delCA
5 papers
NM_153638.4
p.N500I
c.1499A>T
NM_001386393.1
p.N390I
c.1169A>T
1 paper
NM_153638.4
p.L494W
c.1481T>G
2 papers
NM_153638.4
p.I501_G502insFs
c.1501_1504dup4
NM_001386393.1
p.I391_G392insFs
c.1171_1174dup4
1 paper
NM_153638.4
p.I501fs
c.1501_1502fs
8 papers
NM_153638.4
p.I501N
c.1502T>A
NM_001386393.1
p.I391N
c.1172T>A
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