Varaico: Literature-Extracted Genetic Variants

Gene:MARCHF9
Variant:p.C46S

MARCHF9

27 papers

RefSeq Summary

MARCH9 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). MARCH enzymes add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling the...

Pfam Domains

RINGvaa 110–155UCSCRING-variant domain

Gene Aliases

HGNC Name

membrane associated ring-CH-type finger 9

HGNC Previous Symbol

MARCH9

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_138396.6
p.C46S
c.136T>A
Surrounding Variants
1 paper
NM_138396.6
p.C46S
c.137G>C
1 paper
NM_138396.6
p.G51delFs
c.153delC
1 paper
NM_138396.6
p.E55*
c.163G>T
1 paper
NM_138396.6
p.G33fs
c.97_98fs
1 paper
NM_138396.6
p.R31Q
c.92G>A
1 paper
NM_138396.6
p.G33delFs
c.98delG
1 paper
NM_138396.6
p.R23G
c.67C>G
1 paper
NM_138396.6
p.R75R
c.223C>A
1 paper
NM_138396.6
p.P84A
c.250C>G
1 paper
NM_138396.6
p.V132G
c.395T>G
1 paper
NM_138396.6
p.W150*
c.449G>A
1 paper
NM_138396.6
p.W150*
c.450G>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."