Varaico: Literature-Extracted Genetic Variants

Gene:MPV17
Variant:p.W69_L73delFs

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.W69_L73delFs
c.205_217del13
Surrounding Variants
1 paper
NM_002437.5
p.I77I
c.231C>A
7 papers
NM_002437.5
p.W69*
c.207G>A
8 papers
NM_002437.5
p.W69*
c.206G>A
1 paper
NM_002437.5
p.G79G
c.237C>G
1 paper
NM_002437.5
p.T80A
c.238A>G
1 paper
NM_002437.5
p.T80I
c.239C>T
1 paper
NM_002437.5
p.G67R
c.199G>C
1 paper
NM_002437.5
p.G67R
c.199G>A
6 papers
NM_002437.5
p.P78_T81del0
c.234_242del9
5 papers
NM_002437.5
p.V66E
c.197T>A
1 paper
NM_002437.5
p.K82R
c.245A>G
1 paper
NM_002437.5
p.T81del1
c.241_242delGGT
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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."