Varaico: Literature-Extracted Genetic Variants

Gene:MPV17
Variant:p.I33I

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.I33I
c.99C>A
Surrounding Variants
1 paper
NM_002437.5
p.S34P
c.100T>C
1 paper
NM_002437.5
p.Q35K
c.103C>A
6 papers
NM_002437.5
p.Q36*
c.106C>T
4 papers
NM_002437.5
p.Q36P
c.107A>C
1 paper
NM_002437.5
p.L29M
c.85C>A
2 papers
NM_002437.5
p.G28V
c.83G>T
1 paper
NM_002437.5
p.M27K
c.80T>A
1 paper
NM_002437.5
p.S25delFs
c.75delG
10 papers
NM_002437.5
p.R41W
c.121C>T
18 papers
NM_002437.5
p.R41Q
c.122G>A
5 papers
NM_002437.5
p.S25fs
c.73_74fs
1 paper
NM_002437.5
p.L43V
c.127C>G
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