Varaico: Literature-Extracted Genetic Variants

Gene:MTRF1
Variant:p.E100G

MTRF1

67 papers

RefSeq Summary

The protein encoded by this gene was determined by in silico methods to be a mitochondrial protein with similarity to the peptide chain release factors (RFs) discovered in bacteria and yeast. The pept...

Pfam Domains

PCRFaa 82–282UCSCPCRF domain
RF-1aa 289–399UCSCRF-1 domain

Gene Aliases

HGNC Name

mitochondrial translation release factor 1

HGNC Alias Symbols

RF1; MTTRF1; MGC47721

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004294.4
p.E100G
c.299A>G
Surrounding Variants
1 paper
NM_004294.4
p.H95_I96delFs
c.284_287del4
1 paper
NM_004294.4
p.R104K
c.311G>A
1 paper
NM_004294.4
p.R104R
c.312G>A
1 paper
NM_004294.4
p.H95delFs
c.284delT
1 paper
NM_004294.4
p.Q87*
c.259C>T
1 paper
NM_004294.4
p.E85K
c.253G>A
1 paper
NM_004294.4
p.A117_I119delins
c.350_356delinsATGC
1 paper
NM_004294.4
p.L69delFs
c.207delG
1 paper
NM_004294.4
p.E132K
c.394G>A
1 paper
NM_004294.4
p.K67R
c.200A>G
1 paper
NM_004294.4
p.C62_D65delFs
c.185_195del11
1 paper
NM_004294.4
p.Q64*
c.190C>T
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