Varaico: Literature-Extracted Genetic Variants

Gene:MPV17
Variant:p.K88E

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
7 papers
NM_002437.5
p.K88E
c.262A>G
Surrounding Variants
7 papers
NM_002437.5
p.K88M
c.263A>T
8 papers
NM_002437.5
p.M89L
c.265A>T
8 papers
NM_002437.5
p.M89L
c.265A>C
5 papers
NM_002437.5
p.K88_M89delins
c.263_265delinsTGT
10 papers
NM_002437.5
p.K88_M89del1
c.263_265delTCT
8 papers
NM_002437.5
p.L91del1
c.271_273delCAA
2 papers
NM_002437.5
p.D92G
c.275A>G
1 paper
NM_002437.5
p.D92A
c.275A>C
1 paper
NM_002437.5
p.V83delFs
c.247delC
1 paper
NM_002437.5
p.Q93*
c.277C>T
1 paper
NM_002437.5
p.Q93R
c.278A>G
17 papers
NM_002437.5
p.Q93P
c.278A>C
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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."