Varaico: Literature-Extracted Genetic Variants

Gene:MTRFR
Variant:p.L55_E57del0

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
1 paper
NM_152269.5
p.L55_E57del0
c.165_170del6
Surrounding Variants
1 paper
NM_152269.5
p.L55_E57del3
c.163_170del9
2 papers
NM_152269.5
p.E57_N58delFs
c.171_172delGA
2 papers
NM_152269.5
p.N58fs
c.172_173fs
1 paper
NM_152269.5
p.K47del1
c.139_140delAAG
1 paper
NM_152269.5
p.G67delFs
c.201delA
1 paper
NM_152269.5
p.M43fs
c.127_128fs
2 papers
NM_152269.5
p.M43_Y49delFs
c.127_146del20
3 papers
NM_152269.5
p.G69_A74delFs
c.207_220del14
1 paper
NM_152269.5
p.P70fs
c.208_209fs
11 papers
NM_152269.5
p.P70delFs
c.210delA
1 paper
NM_152269.5
p.G72fs
c.214_215fs
7 papers
NM_152269.5
p.G72fs
c.214_215fs
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