Varaico: Literature-Extracted Genetic Variants

Gene:MARCHF1
Variant:p.N11K

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
Selected Variant
1 paper
NM_001394959.1
p.N11K
c.33C>A
Surrounding Variants
1 paper
NM_001394959.1
p.N11K
c.33C>G
2 papers
NM_001394959.1
p.M1K
c.2T>A
1 paper
NM_001394959.1
p.D30H
c.88G>C
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