Varaico: Literature-Extracted Genetic Variants

Gene:MARCHF9
Variant:p.C234S

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.C234S
c.700T>A
Surrounding Variants
1 paper
NM_138396.6
p.C234S
c.701G>C
1 paper
NM_138396.6
p.V232F
c.694G>T
1 paper
NM_138396.6
p.D231A
c.692A>C
1 paper
NM_138396.6
p.D231N
c.691G>A
1 paper
NM_138396.6
p.M230V
c.688A>G
1 paper
NM_138396.6
p.Y227F
c.680A>T
1 paper
NM_138396.6
p.M226V
c.676A>G
1 paper
NM_138396.6
p.G225V
c.674G>T
1 paper
NM_138396.6
p.Y224F
c.671A>T
1 paper
NM_138396.6
p.C223S
c.668G>C
1 paper
NM_138396.6
p.C223S
c.667T>A
1 paper
NM_138396.6
p.I203T
c.608T>C
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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."