Varaico: Literature-Extracted Genetic Variants

Gene:MPV17
Variant:p.P106delFs

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.P106delFs
c.317delG
Surrounding Variants
1 paper
NM_002437.5
p.P106P
c.318A>T
1 paper
NM_002437.5
p.P106fs
c.316_317fs
5 papers
NM_002437.5
p.C103del1
c.307_308delGCA
1 paper
NM_002437.5
p.C103*
c.309C>A
2 papers
NM_002437.5
p.G102delFs
c.304delC
1 paper
NM_002437.5
p.C99*
c.297T>A
1 paper
NM_002437.5
p.L114L
c.340C>T
2 papers
NM_002437.5
p.P98delFs
c.293delG
39 papers
NM_002437.5
p.P98L
c.293C>T
2 papers
NM_002437.5
p.P98fs
c.292_293fs
1 paper
NM_002437.5
p.S115L
c.344C>T
1 paper
NM_002437.5
p.F96fs
c.286_287fs
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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."