Varaico: Literature-Extracted Genetic Variants

Gene:MTFR1L
Variant:p.R108H

MTFR1L

31 papers

Pfam Domains

Mito_fiss_regaa 10–254UCSCMitochondrial fission regulator

Gene Aliases

HGNC Name

mitochondrial fission regulator 1 like

HGNC Previous Symbol

FAM54B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001099625.2
p.R108H
c.323G>A
Surrounding Variants
1 paper
NM_001099625.2
p.S103A
c.307T>G
2 papers
NM_001099625.2
p.R100H
c.299G>A
1 paper
NM_001099625.2
p.R100L
c.299G>T
1 paper
NM_001099625.2
p.R127H
c.380G>A
1 paper
NM_001099625.2
p.T128insFs
c.382_383insCA
1 paper
NM_001099625.2
p.T129insFs
c.386_387insCC
1 paper
NM_001099625.2
p.E130K
c.388G>A
1 paper
NM_001099625.2
p.L86V
c.256C>G
1 paper
NM_001099625.2
p.R84C
c.250C>T
1 paper
NM_001099625.2
p.T83M
c.248C>T
1 paper
NM_001099625.2
p.D133D
c.399C>T
1 paper
NM_001099625.2
p.D82N
c.244G>A
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