Varaico: Literature-Extracted Genetic Variants

Gene:MPV17
Variant:p.R50Q

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
52 papers
NM_002437.5
p.R50Q
c.149G>A
Surrounding Variants
28 papers
NM_002437.5
p.R50W
c.148C>T
2 papers
NM_002437.5
p.E39_Q47delFs
c.116_141del26
1 paper
NM_002437.5
p.T51P
c.151A>C
1 paper
NM_002437.5
p.Q47_R48delFs
c.140_144del5
1 paper
NM_002437.5
p.R48T
c.143G>C
1 paper
NM_002437.5
p.E39_Q47delFs
c.116_140del25
1 paper
NM_002437.5
p.M54V
c.160A>G
1 paper
NM_002437.5
p.H46R
c.137A>G
1 paper
NM_002437.5
p.H46insFs
c.137_138ins8
4 papers
NM_002437.5
p.E45delFs
c.135delT
1 paper
NM_002437.5
p.V55L
c.163G>T
1 paper
NM_002437.5
p.E45D
c.135A>T
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