Varaico: Literature-Extracted Genetic Variants

Gene:MFF
Variant:p.N198D

MFF

52 papers

RefSeq Summary

This is a nuclear gene encoding a protein that functions in mitochondrial and peroxisomal fission. The encoded protein recruits dynamin-1-like protein (DNM1L) to mitochondria. There are multiple pseud...

Pfam Domains

Miffaa 27–342UCSCMitochondrial and peroxisomal fission factor Mff

Gene Aliases

HGNC Name

mitochondrial fission factor

HGNC Previous Symbol

C2orf33

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001277062.2
p.N198D
c.592A>G
Surrounding Variants
1 paper
NM_001277062.2
p.R174C
c.520C>T
1 paper
NM_001277062.2
p.V157_P159Fs
c.471_475delinsCGCTCTFs
1 paper
NM_001277062.2
p.V157insFs
c.470_471ins5
2 papers
NM_001277062.2
p.S151_P152delFs
c.453_454delGC
1 paper
NM_001277062.2
p.P150S
c.448C>T
1 paper
NM_020194.5
p.T198A
c.592A>G
1 paper
NM_001277062.2
p.S212A
c.634T>G
1 paper
NM_001277062.2
p.H215_H216insFs
c.645_646ins5
1 paper
NM_001277062.2
p.N218insFs
c.652_653insG
1 paper
NM_001277062.2
p.E132fs
c.394_395fs
1 paper
NM_001277062.2
p.E132_N133delFs
c.394_397del4
1 paper
NM_001277062.2
p.S131insFs
c.392_393ins5
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."