Varaico: Literature-Extracted Genetic Variants

Gene:MPV17
Variant:p.L151insFs

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
20 papers
NM_002437.5
p.L151insFs
c.451dupC
Surrounding Variants
1 paper
NM_002437.5
p.L151P
c.452T>C
2 papers
NM_002437.5
p.L151fs
c.451_452fs
5 papers
NM_002437.5
p.L151fs
c.451_452fs
1 paper
NM_002437.5
p.R154G
c.460A>G
1 paper
NM_002437.5
p.L148P
c.443T>C
1 paper
NM_002437.5
p.R154M
c.461G>T
1 paper
NM_002437.5
p.R154T
c.461G>C
6 papers
NM_002437.5
p.R154Splc
c.461+1G>C
1 paper
NM_002437.5
p.N145_F146insFs
c.435_436insAG
1 paper
NM_002437.5
p.A140_A144del5
c.418_431del15
9 papers
NM_002437.5
p.L143*
c.428T>G
9 papers
NM_002437.5
p.L143*
c.428T>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."