Varaico: Literature-Extracted Genetic Variants

Gene:MTRFR

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
1–12 of 58 variants
20 papers
NM_152269.5
p.R132*
c.394C>T
11 papers
NM_152269.5
p.P70delFs
c.210delA
9 papers
NM_152269.5
p.V83delFs
c.248delT
8 papers
NM_152269.5
p.L32_S33insFs
c.96_99dup4
7 papers
NM_152269.5
p.G72fs
c.214_215fs
6 papers
NM_152269.5
p.P34fs
c.100_101fs
6 papers
NM_152269.5
p.V83fs
c.247_248fs
6 papers
NM_152269.5
p.V116delFs
c.346delG
4 papers
NM_152269.5
p.R15Q
c.44G>A
4 papers
NM_152269.5
p.H86_G90insFs
c.258_270dup13
4 papers
NM_152269.5
p.K94_C95Splc
c.282+2T>A
4 papers
NM_152269.5
p.K138fs
c.412_413fs
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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."