Varaico: Literature-Extracted Genetic Variants

Gene:MARCHF8
Variant:p.F532L

MARCHF8

54 papers

RefSeq Summary

MARCH8 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 80–126UCSCRING-variant domain
RINGvaa 80–126UCSCRING-variant domain

Gene Aliases

HGNC Name

membrane associated ring-CH-type finger 8

HGNC Previous Symbol

MARCH8

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001282866.2
p.F532L
c.1594T>C
Surrounding Variants
1 paper
NM_001282866.2
p.F532L
c.1596T>G
1 paper
NM_001282866.2
p.F532L
c.1596T>A
2 papers
NM_001282866.2
p.Y548H
c.1642T>C
1 paper
NM_001282866.2
p.G469V
c.1406G>T
1 paper
NM_001282866.2
p.Y456H
c.1366T>C
1 paper
NM_001282866.2
p.V451fs
c.1351_1352fs
1 paper
NM_001282866.2
p.T449_C450delFs
c.1347_1348delAT
2 papers
NM_001282866.2
p.P374S
c.1120C>T
1 paper
NM_001282866.2
p.C362fs
c.1084_1085fs
1 paper
NM_001282866.2
p.C362delFs
c.1085delC
1 paper
NM_001282866.2
p.S343del1
c.1027_1029delAGA
1 paper
NM_001282866.2
p.A328V
c.983C>T
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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."