Varaico: Literature-Extracted Genetic Variants

Gene:MTIF3
Variant:p.K195fs

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.K195fs
c.583_584fs
Surrounding Variants
1 paper
NM_152912.5
p.K195_G196delFs
c.583_586del4
1 paper
NM_152912.5
p.I183I
c.549T>C
1 paper
NM_152912.5
p.E207K
c.619G>A
1 paper
NM_152912.5
p.L214H
c.641T>A
1 paper
NM_152912.5
p.F243L
c.727T>C
1 paper
NM_152912.5
p.F243C
c.728T>G
2 papers
NM_152912.5
p.F243L
c.729C>G
1 paper
NM_152912.5
p.F243L
c.729C>A
1 paper
NM_152912.5
p.N264T
c.791A>C
6 papers
NM_152912.5
p.D266D
c.798C>T
1 paper
NM_152912.5
p.E139_R140insT
c.415_419ins3
5 papers
NM_152912.5
p.Q138R
c.413A>G
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