Varaico: Literature-Extracted Genetic Variants

Gene:MTFR1
Variant:p.K300K

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.K300K
c.900G>A
Surrounding Variants
1 paper
NM_014637.4
p.R309S
c.927A>C
1 paper
NM_014637.4
p.R309S
c.927A>T
1 paper
NM_014637.4
p.A283P
c.847G>C
1 paper
NM_014637.4
p.N246_K249del4
c.736_746del12
1 paper
NM_014637.4
p.L225F
c.675G>C
1 paper
NM_014637.4
p.L225F
c.675G>T
1 paper
NM_014637.4
p.N220S
c.659A>G
1 paper
NM_014637.4
p.R215fs
c.643_644fs
1 paper
NM_014637.4
p.P195P
c.585T>C
1 paper
NM_014637.4
p.P195L
c.584C>T
1 paper
NM_014637.4
p.P192P
c.576G>T
1 paper
NM_014637.4
p.P190T
c.568C>A
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