Varaico: Literature-Extracted Genetic Variants

Gene:MPV17
Variant:p.V62_G63Splc

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.V62_G63Splc
c.186+2T>C
Surrounding Variants
3 papers
NM_002437.5
p.V62_G63Splc
c.186+1G>T
1 paper
NM_002437.5
p.V62G
c.185T>G
2 papers
NM_002437.5
p.F61S
c.182T>C
1 paper
NM_002437.5
p.C59_F61del0
c.176_181del6
1 paper
NM_002437.5
p.T53_C59del0
c.159_176del18
1 paper
NM_002437.5
p.L52_G58del0
c.156_173del18
1 paper
NM_002437.5
p.L57R
c.170T>G
1 paper
NM_002437.5
p.S56F
c.167C>T
1 paper
NM_002437.5
p.S56T
c.166T>A
1 paper
NM_002437.5
p.V55L
c.163G>T
1 paper
NM_002437.5
p.M54V
c.160A>G
1 paper
NM_002437.5
p.T51P
c.151A>C
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