Varaico: Literature-Extracted Genetic Variants

Gene:PANK2
Variant:p.L276_L277delFs

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_001386393.1
p.L276_L277delFs
c.828_829delTC
Surrounding Variants
2 papers
NM_153638.4
p.L387_V388insFs
c.1161_1162insG
4 papers
NM_001386393.1
p.L275fs
c.823_824fs
NM_153638.4
p.L385fs
c.1153_1154fs
1 paper
NM_153638.4
p.L385insFs
c.1154_1155insTT
2 papers
NM_153638.4
p.L385Fs
c.1153delinsTTFs
3 papers
NM_001386393.1
p.L275delFs
c.824_825delTG
2 papers
NM_001386393.1
p.L275fs
c.823_824fs
NM_153638.4
p.L385fs
c.1153_1154fs
7 papers
NM_001386393.1
p.L275delFs
c.823_824delCT
1 paper
NM_153638.4
p.I390F
c.1168A>T
1 paper
NM_153638.4
p.I390S
c.1169T>G
1 paper
NM_001386393.1
p.S282A
c.844T>G
2 papers
NM_001386393.1
p.S282_G283delFs
c.846_847delAG
2 papers
NM_001386393.1
p.V284delFs
c.850_851delGT
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