Varaico: Literature-Extracted Genetic Variants

Gene:MTRF1
Variant:p.M1R

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.M1R
c.2T>G
Surrounding Variants
1 paper
NM_004294.4
p.M1I
c.3G>A
1 paper
NM_004294.4
p.M1V
c.1A>G
1 paper
NM_004294.4
p.H4Y
c.10C>T
1 paper
NM_004294.4
p.C6R
c.16T>C
1 paper
NM_004294.4
p.Y18N
c.52T>A
1 paper
NM_004294.4
p.C21W
c.63T>G
1 paper
NM_004294.4
p.Q24*
c.70C>T
1 paper
NM_004294.4
p.F30L
c.90T>G
1 paper
NM_004294.4
p.S54G
c.160A>G
1 paper
NM_004294.4
p.C62C
c.186C>T
1 paper
NM_004294.4
p.Q64*
c.190C>T
1 paper
NM_004294.4
p.C62_D65delFs
c.185_195del11
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."