Varaico: Literature-Extracted Genetic Variants

Gene:PANK2
Variant:p.L172_R176delFs

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_001386393.1
p.L172_R176delFs
c.515_527del13
Surrounding Variants
2 papers
NM_001386393.1
p.L172V
c.514C>G
3 papers
NM_001386393.1
p.L172L
c.516G>C
1 paper
NM_001386393.1
p.H173Q
c.519C>A
4 papers
NM_001386393.1
p.H173Q
c.519C>G
1 paper
NM_153638.4
p.G280V
c.839G>T
2 papers
NM_001386393.1
p.G170_F174delFs
c.510_522del13
2 papers
NM_153638.4
p.F284L
c.850T>C
2 papers
NM_153638.4
p.F284L
c.852T>A
2 papers
NM_153638.4
p.F284L
c.852T>G
1 paper
NM_001386393.1
p.I175delFs
c.524delT
2 papers
NM_001386393.1
p.R168H
c.503G>A
NM_153638.4
p.R278H
c.833G>A
1 paper
NM_153638.4
p.R278P
c.833G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."