Varaico: Literature-Extracted Genetic Variants

Gene:MTRFR
Variant:p.H86_G90insFs

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
4 papers
NM_152269.5
p.H86_G90insFs
c.258_270dup13
Surrounding Variants
1 paper
NM_152269.5
p.S89*
c.266C>A
1 paper
NM_152269.5
p.S89*
c.266C>G
1 paper
NM_152269.5
p.V83fs
c.247_248fs
9 papers
NM_152269.5
p.V83delFs
c.248delT
6 papers
NM_152269.5
p.V83fs
c.247_248fs
1 paper
NM_152269.5
p.I91fs
c.271_272fs
1 paper
NM_152269.5
p.I91fs
c.271_272fs
1 paper
NM_152269.5
p.I91I
c.273C>T
3 papers
NM_152269.5
p.K94K
c.282G>A
4 papers
NM_152269.5
p.K94_C95Splc
c.282+2T>A
1 paper
NM_152269.5
p.G72fs
c.214_215fs
7 papers
NM_152269.5
p.G72fs
c.214_215fs
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