Varaico: Literature-Extracted Genetic Variants

Gene:MTFR1
Variant:p.V82_A83delFs

MTFR1

26 papers

RefSeq Summary

This gene encodes a mitochondrial protein that is characterized by a poly-proline rich region. A chicken homolog of this protein promotes mitochondrial fission and the mouse homolog protects cells fro...

Pfam Domains

Mito_fiss_regaa 22–251UCSCMitochondrial fission regulator

Gene Aliases

HGNC Name

mitochondrial fission regulator 1

HGNC Alias Symbols

CHPPR; KIAA0009; FAM54A2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014637.4
p.V82_A83delFs
c.246_249del4
Surrounding Variants
1 paper
NM_014637.4
p.E85V
c.254A>T
1 paper
NM_014637.4
p.C89*
c.267T>A
1 paper
NM_014637.4
p.A74V
c.221C>T
1 paper
NM_014637.4
p.I56I
c.168T>A
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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."