Varaico: Literature-Extracted Genetic Variants

Gene:MPV17L2
Variant:p.F143L

MPV17L2

18 papers

Pfam Domains

Mpv17_PMP22aa 122–183UCSCMpv17 / PMP22 family

Gene Aliases

HGNC Name

MPV17 mitochondrial inner membrane protein like 2

HGNC Alias Symbols

FKSG24; MGC12972

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032683.3
p.F143L
c.427T>C
Surrounding Variants
1 paper
NM_032683.3
p.F143L
c.429C>A
1 paper
NM_032683.3
p.F143L
c.429C>G
1 paper
NM_032683.3
p.G130C
c.388G>T
1 paper
NM_032683.3
p.V162fs
c.484_485fs
1 paper
NM_032683.3
p.P163insFs
c.487dupC
1 paper
NM_032683.3
p.G91D
c.272G>A
7 papers
NM_032683.3
p.M72V
c.214A>G
1 paper
NM_032683.3
p.V68A
c.203T>C
1 paper
NM_032683.3
p.V68L
c.202G>C
1 paper
NM_032683.3
p.V68L
c.202G>T
1 paper
NM_032683.3
p.R204Q
c.611G>A
1 paper
NM_032683.3
p.P59S
c.175C>T
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