Varaico: Literature-Extracted Genetic Variants

Gene:MARCHF1

MARCHF1

33 papers

RefSeq Summary

MARCH1 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). MARCH proteins add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling th...

Pfam Domains

RINGvaa 80–126UCSCRING-variant domain

Gene Aliases

HGNC Name

membrane associated ring-CH-type finger 1

HGNC Previous Symbol

MARCH1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 22 variants
2 papers
NM_001394959.1
p.M1K
c.2T>A
1 paper
NM_001394959.1
p.N11K
c.33C>G
1 paper
NM_001394959.1
p.N11K
c.33C>A
1 paper
NM_001394959.1
p.D30H
c.88G>C
1 paper
NM_001394959.1
p.L37_N38Splc
c.112-1G>C
1 paper
NM_001394959.1
p.A63S
c.187G>T
1 paper
NM_001394959.1
p.P64P
c.192C>A
1 paper
NM_001394959.1
p.Q77E
c.229C>G
1 paper
NM_001394959.1
p.Q77K
c.229C>A
1 paper
NM_001394959.1
p.M88L
c.262A>T
1 paper
NM_001394959.1
p.V101L
c.301G>T
1 paper
NM_001394959.1
p.V114E
c.341T>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."