Varaico: Literature-Extracted Genetic Variants

Gene:MARCHF8

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
1–12 of 49 variants
3 papers
NM_001282866.2
p.H92Y
c.274C>T
3 papers
NM_001282866.2
p.L269W
c.806T>G
3 papers
NM_001282866.2
p.F277L
c.829T>C
3 papers
NM_001282866.2
p.F277L
c.831C>G
3 papers
NM_001282866.2
p.F277L
c.831C>A
2 papers
NM_001282866.2
p.F67S
c.200T>C
2 papers
NM_001282866.2
p.S266P
c.796T>C
2 papers
NM_001282866.2
p.P374S
c.1120C>T
2 papers
NM_001282866.2
p.Y548H
c.1642T>C
1 paper
NM_001282866.2
p.M1K
c.2T>A
1 paper
NM_001282866.2
p.P4L
c.11C>T
1 paper
NM_001282866.2
p.L5L
c.13C>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."