Varaico: Literature-Extracted Genetic Variants

Gene:PANK2
Variant:p.R278C

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.R168C
c.502C>T
Surrounding Variants
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
6 papers
NM_153638.4
p.R278L
c.833G>T
NM_001386393.1
p.R168L
c.503G>T
1 paper
NM_001386393.1
p.R168_N171delFs
c.502_512del11
1 paper
NM_001386393.1
p.C166_G167insFs
c.498_499insTC
2 papers
NM_153638.4
p.C276fs
c.826_827fs
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.L275fs
c.823_824fs
2 papers
NM_153638.4
p.L275delFs
c.824_825delTG
1 paper
NM_153638.4
p.L275fs
c.823_824fs
1 paper
NM_001386393.1
p.T164A
c.490A>G
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