Varaico: Literature-Extracted Genetic Variants

Gene:PANK2
Variant:p.Y536C

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
4 papers
NM_153638.4
p.Y536C
c.1607A>G
Surrounding Variants
2 papers
NM_001386393.1
p.L424F
c.1272G>C
2 papers
NM_001386393.1
p.L424F
c.1272G>T
3 papers
NM_001386393.1
p.A425del1
c.1273_1275delGCA
1 paper
NM_001386393.1
p.D429H
c.1285G>C
2 papers
NM_001386393.1
p.L424del1
c.1270_1271delTTG
1 paper
NM_001386393.1
p.L423del1
c.1267_1269delCTT
3 papers
NM_153638.4
p.R532W
c.1594C>T
NM_001386393.1
p.R422W
c.1264C>T
1 paper
NM_001386393.1
p.M421insFs
c.1263dupG
1 paper
NM_001386393.1
p.M421fs
c.1261_1262fs
1 paper
NM_001386393.1
p.M421delFs
c.1261_1262delAT
1 paper
NM_001386393.1
p.A420delFs
c.1259delC
3 papers
NM_001386393.1
p.I419V
c.1255A>G
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