Varaico: Literature-Extracted Genetic Variants

Gene:PANK2
Variant:p.D378G

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
14 papers
NM_001386393.1
p.D378G
c.1133A>G
Surrounding Variants
2 papers
NM_153638.4
p.L489P
c.1466T>C
1 paper
NM_153638.4
p.A490delFs
c.1470delC
1 paper
NM_001386393.1
p.A380V
c.1139C>T
2 papers
NM_001386393.1
p.R381_A382del1
c.1142_1144delGAG
1 paper
NM_001386393.1
p.K376_T388del13
c.1126_1163del39
1 paper
NM_153638.4
p.A492G
c.1475C>G
4 papers
NM_153638.4
p.A492V
c.1475C>T
NM_001386393.1
p.A382V
c.1145C>T
1 paper
NM_153638.4
p.L494W
c.1481T>G
1 paper
NM_001386393.1
p.I385insFs
c.1154_1155insT
1 paper
NM_001386393.1
p.I385insFs
c.1154_1155insTT
2 papers
NM_153638.4
p.R481Q
c.1442G>A
NM_001386393.1
p.R371Q
c.1112G>A
1 paper
NM_153638.4
p.R481P
c.1442G>C
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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."