Varaico: Literature-Extracted Genetic Variants

Gene:MTFR2
Variant:p.L3R

MTFR2

20 papers

Pfam Domains

Mito_fiss_regaa 23–286UCSCMitochondrial fission regulator
Mito_fiss_regaa 23–286UCSCMitochondrial fission regulator

Gene Aliases

HGNC Name

mitochondrial fission regulator 2

HGNC Previous Symbols

DUFD1; FAM54A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001099286.3
p.L3R
c.8T>G
Surrounding Variants
1 paper
NM_001099286.3
p.R51Q
c.152G>A
1 paper
NM_001099286.3
p.L57V
c.169T>G
1 paper
NM_001099286.3
p.Y81N
c.241T>A
1 paper
NM_001099286.3
p.R94Q
c.281G>A
1 paper
NM_001099286.3
p.R94Q
c.281G>A
2 papers
NM_001099286.3
p.R115W
c.343C>T
1 paper
NM_001099286.3
p.R140T
c.419G>C
2 papers
NM_001099286.3
p.Q163*
c.487C>T
1 paper
NM_001099286.3
p.S171C
c.512C>G
1 paper
NM_001099286.3
p.R190W
c.568C>T
1 paper
NM_001099286.3
p.L274F
c.822G>T
1 paper
NM_001099286.3
p.L274F
c.822G>C
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