Varaico: Literature-Extracted Genetic Variants

Gene:MPV17
Variant:p.L169P

MPV17

259 papers

RefSeq Summary

This gene encodes a mitochondrial inner membrane protein that is implicated in the metabolism of reactive oxygen species. Mutations in this gene have been associated with the hepatocerebral form of mi...

Pfam Domains

Mpv17_PMP22aa 109–170UCSCMpv17 / PMP22 family

Gene Aliases

HGNC Name

mitochondrial inner membrane protein MPV17

HGNC Alias Symbol

SYM1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002437.5
p.L169P
c.506T>C
Surrounding Variants
13 papers
NM_002437.5
p.S170F
c.509C>T
1 paper
NM_002437.5
p.L169_S170delFs
c.505_508del4
10 papers
NM_002437.5
p.N166K
c.498C>G
1 paper
NM_002437.5
p.N166insFs
c.496dupA
10 papers
NM_002437.5
p.N166K
c.498C>A
2 papers
NM_002437.5
p.H174Y
c.520C>T
2 papers
NM_002437.5
p.R175Q
c.524G>A
1 paper
NM_002437.5
p.R175R
c.525G>A
7 papers
NM_002437.5
p.A162D
c.485C>A
1 paper
NM_002437.5
p.Q159R
c.476A>G
1 paper
NM_002437.5
p.V157I
c.469G>A
3 papers
NM_002437.5
p.L155M
c.463T>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."