Varaico: Literature-Extracted Genetic Variants

Gene:MARCHF2
Variant:p.R219P

MARCHF2

21 papers

RefSeq Summary

MARCH2 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 64–109UCSCRING-variant domain

Gene Aliases

HGNC Name

membrane associated ring-CH-type finger 2

HGNC Previous Symbol

MARCH2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_001005415.2
p.R219P
c.656G>C
Surrounding Variants
1 paper
NM_001005415.2
p.F197L
c.591C>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."