Varaico: Literature-Extracted Genetic Variants

Gene:MPV17
Variant:p.Q19delFs

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.Q19delFs
c.55delG
Surrounding Variants
5 papers
NM_002437.5
p.L21R
c.62T>G
1 paper
NM_002437.5
p.K17Fs
c.49_51delinsGGTTAAACTAFs
1 paper
NM_002437.5
p.P15_K17Fs
c.45_49delinsACACFs
3 papers
NM_002437.5
p.T22_A23insC
c.64_68ins3
4 papers
NM_002437.5
p.A23P
c.67G>C
3 papers
NM_002437.5
p.G24W
c.70G>T
1 paper
NM_002437.5
p.H14L
c.41A>T
11 papers
NM_002437.5
p.G24Splc
c.70+5G>A
1 paper
NM_002437.5
p.A10S
c.28G>T
6 papers
NM_002437.5
p.Q8insFs
c.22_23insC
1 paper
NM_002437.5
p.Q8*
c.22C>T
1 paper
NM_002437.5
p.R5R
c.15G>A
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