Varaico: Literature-Extracted Genetic Variants

Gene:MPV17L
Variant:p.A73S

MPV17L

12 papers

Pfam Domains

Mpv17_PMP22aa 106–165UCSCMpv17 / PMP22 family

Gene Aliases

HGNC Name

MPV17 mitochondrial inner membrane protein like

HGNC Alias Symbols

FLJ39599; M-LPH; M-LPH1; M-LPH2; MPV17L1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001128423.2
p.A73S
c.217G>T
Surrounding Variants
1 paper
NM_001128423.2
p.Y64*
c.192C>A
1 paper
NM_001128423.2
p.Y64*
c.192C>G
1 paper
NM_001128423.2
p.A60P
c.178G>C
1 paper
NM_001128423.2
p.A94V
c.281C>T
1 paper
NM_001128423.2
p.Y24*
c.72C>A
1 paper
NM_001128423.2
p.Y24*
c.72C>G
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