Varaico: Literature-Extracted Genetic Variants

Gene:MTIF3
Variant:p.I40V

MTIF3

34 papers

RefSeq Summary

This gene encodes a translation initiation factor that is involved in mitochondrial protein synthesis. Polymorphism in this gene is associated with the onset of Parkinson's disease. Alternate splicing...

Pfam Domains

IF3_Naa 78–146UCSCTranslation initiation factor IF-3, N-terminal domain

Gene Aliases

HGNC Name

mitochondrial translational initiation factor 3

HGNC Alias Symbols

IF-3mt; IF3(mt)

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_152912.5
p.I40V
c.118A>G
Surrounding Variants
1 paper
NM_152912.5
p.S47insFs
c.139_140insT
1 paper
NM_152912.5
p.S47fs
c.139_140fs
1 paper
NM_152912.5
p.H51R
c.152A>G
1 paper
NM_152912.5
p.F55Y
c.164T>A
1 paper
NM_152912.5
p.S19I
c.56G>T
1 paper
NM_152912.5
p.Q62*
c.184C>T
1 paper
NM_152912.5
p.G65E
c.194G>A
1 paper
NM_152912.5
p.K72Q
c.214A>C
1 paper
NM_152912.5
p.R85Q
c.254G>A
1 paper
NM_152912.5
p.R112*
c.334C>T
2 papers
NM_152912.5
p.R115Q
c.344G>A
5 papers
NM_152912.5
p.Q138R
c.413A>G
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