Varaico: Literature-Extracted Genetic Variants

Gene:MPV17
Variant:p.E45fs

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
4 papers
NM_002437.5
p.E45fs
c.133_134fs
Surrounding Variants
1 paper
NM_002437.5
p.E45D
c.135A>T
1 paper
NM_002437.5
p.E45D
c.135A>C
4 papers
NM_002437.5
p.Q44*
c.130C>T
4 papers
NM_002437.5
p.E45delFs
c.135delT
1 paper
NM_002437.5
p.H46R
c.137A>G
1 paper
NM_002437.5
p.H46insFs
c.137_138ins8
1 paper
NM_002437.5
p.L43V
c.127C>G
1 paper
NM_002437.5
p.E39_Q47delFs
c.116_140del25
1 paper
NM_002437.5
p.R48T
c.143G>C
18 papers
NM_002437.5
p.R41Q
c.122G>A
1 paper
NM_002437.5
p.Q47_R48delFs
c.140_144del5
10 papers
NM_002437.5
p.R41W
c.121C>T
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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."