Varaico: Literature-Extracted Genetic Variants

Gene:PGAM5
Variant:p.E79A

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
2 papers
NM_001170543.2
p.E79A
c.236A>C
Surrounding Variants
2 papers
NM_001170543.2
p.S80A
c.238T>G
1 paper
NM_001170543.2
p.S80Y
c.239C>A
1 paper
NM_001170543.2
p.N77D
c.229A>G
1 paper
NM_001170543.2
p.E82K
c.244G>A
1 paper
NM_001170543.2
p.K88R
c.263A>G
1 paper
NM_001170543.2
p.E66A
c.197A>C
1 paper
NM_001170543.2
p.I100I
c.300C>A
1 paper
NM_001170543.2
p.D111A
c.332A>C
2 papers
NM_001170543.2
p.R118H
c.353G>A
1 paper
NM_001170543.2
p.T121N
c.362C>A
1 paper
NM_001170543.2
p.A136V
c.407C>T
1 paper
NM_001170543.2
p.K141R
c.422A>G
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