Varaico: Literature-Extracted Genetic Variants

Gene:MPV17
Variant:p.Q8*

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.Q8*
c.22C>T
Surrounding Variants
6 papers
NM_002437.5
p.Q8insFs
c.22_23insC
1 paper
NM_002437.5
p.A10S
c.28G>T
1 paper
NM_002437.5
p.R5R
c.15G>A
1 paper
NM_002437.5
p.L3insFs
c.8_9insT
2 papers
NM_002437.5
p.M1I
c.3G>T
1 paper
NM_002437.5
p.M1_A2insFs
c.3_4insT
2 papers
NM_002437.5
p.M1I
c.3G>C
4 papers
NM_002437.5
p.M1I
c.3G>A
1 paper
NM_002437.5
p.H14L
c.41A>T
1 paper
NM_002437.5
p.M1T
c.2T>C
1 paper
NM_002437.5
p.M1K
c.2T>A
1 paper
NM_002437.5
p.M1V
c.1A>G
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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."