Varaico: Literature-Extracted Genetic Variants

Gene:MTRFR
Variant:p.V116delFs

MTRFR

74 papers

Pfam Domains

RF-1aa 48–163UCSCRF-1 domain

Gene Aliases

HGNC Name

mitochondrial translation release factor in rescue

HGNC Previous Symbol

C12orf65

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
6 papers
NM_152269.5
p.V116delFs
c.346delG
Surrounding Variants
1 paper
NM_152269.5
p.V118A
c.353T>C
1 paper
NM_152269.5
p.L112L
c.334C>T
1 paper
NM_152269.5
p.R109W
c.325C>T
20 papers
NM_152269.5
p.R132*
c.394C>T
1 paper
NM_152269.5
p.C95G
c.283T>G
1 paper
NM_152269.5
p.C95_H96ins4
c.283_287ins12
1 paper
NM_152269.5
p.K138insFs
c.414dupA
3 papers
NM_152269.5
p.K138_Q139delFs
c.413_417del5
4 papers
NM_152269.5
p.K138fs
c.412_413fs
3 papers
NM_152269.5
p.Q139*
c.415C>T
1 paper
NM_152269.5
p.R141_L149delFs
c.422_446del25
1 paper
NM_152269.5
p.A145fs
c.433_434fs
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."