Varaico: Literature-Extracted Genetic Variants

Gene:PGAM5
Variant:p.E220A

PGAM5

50 papers

Pfam Domains

His_Phos_1aa 100–277UCSCHistidine phosphatase superfamily (branch 1)

Gene Aliases

HGNC Name

PGAM family member 5, mitochondrial serine/threonine protein phosphatase

HGNC Alias Symbols

MGC5352; BXLBv68

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001170543.2
p.E220A
c.659A>C
Surrounding Variants
1 paper
NM_001170543.2
p.Y224*
c.672C>A
1 paper
NM_001170543.2
p.Y224*
c.672C>G
1 paper
NM_001170543.2
p.R214H
c.641G>A
1 paper
NM_001170543.2
p.Y211F
c.632A>T
1 paper
NM_001170543.2
p.Q196Q
c.588G>A
3 papers
NM_001170543.2
p.K191R
c.572A>G
1 paper
NM_001170543.2
p.A179T
c.535G>A
1 paper
NM_001170543.2
p.L175del1
c.523_524delCTG
1 paper
NM_001170543.2
p.V170_L175del6
c.508_524del18
1 paper
NM_001170543.2
p.G166Splc
c.496+13C>T
2 papers
NM_001170543.2
p.D158A
c.473A>C
1 paper
NM_001170543.2
p.T156fs
c.466_467fs
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