Varaico: Literature-Extracted Genetic Variants

Gene:MARCHF5
Variant:p.C65S

MARCHF5

36 papers

RefSeq Summary

MARCH5 is a ubiquitin ligase of the mitochondrial outer membrane that plays a role in the control of mitochondrial morphology by regulating mitofusin-2 (MFN2; MIM 608507) and DRP1 (DNM1L; MIM 603850) ...

Pfam Domains

RINGvaa 14–68UCSCRING-variant domain

Gene Aliases

HGNC Name

membrane associated ring-CH-type finger 5

HGNC Previous Symbols

RNF153; MARCH5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
9 papers
NM_017824.5
p.C65S
c.194G>C
Surrounding Variants
9 papers
NM_017824.5
p.C65S
c.193T>A
9 papers
NM_017824.5
p.C68S
c.202T>A
9 papers
NM_017824.5
p.C68S
c.203G>C
1 paper
NM_017824.5
p.R62T
c.185G>C
1 paper
NM_017824.5
p.G57E
c.170G>A
1 paper
NM_017824.5
p.E53G
c.158A>G
1 paper
NM_017824.5
p.R49H
c.146G>A
1 paper
NM_017824.5
p.K40E
c.118A>G
1 paper
NM_017824.5
p.G37R
c.109G>A
1 paper
NM_017824.5
p.G37R
c.109G>C
1 paper
NM_017824.5
p.E28K
c.82G>A
1 paper
NM_017824.5
p.D24H
c.70G>C
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