Varaico: Literature-Extracted Genetic Variants

Gene:MTRFR
Variant:p.V38I

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.V38I
c.112G>A
Surrounding Variants
2 papers
NM_152269.5
p.P34fs
c.100_101fs
6 papers
NM_152269.5
p.P34fs
c.100_101fs
2 papers
NM_152269.5
p.M43_Y49delFs
c.127_146del20
1 paper
NM_152269.5
p.M43fs
c.127_128fs
8 papers
NM_152269.5
p.L32_S33insFs
c.96_99dup4
1 paper
NM_152269.5
p.L32fs
c.94_95fs
1 paper
NM_152269.5
p.K47del1
c.139_140delAAG
1 paper
NM_152269.5
p.R24W
c.70C>T
1 paper
NM_152269.5
p.L55_E57del3
c.163_170del9
1 paper
NM_152269.5
p.L55_E57del0
c.165_170del6
2 papers
NM_152269.5
p.E57_N58delFs
c.171_172delGA
2 papers
NM_152269.5
p.N58fs
c.172_173fs
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