Varaico: Literature-Extracted Genetic Variants

Gene:MARCHF1
Variant:p.Q77E

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.Q77E
c.229C>G
Surrounding Variants
1 paper
NM_001394959.1
p.Q77K
c.229C>A
1 paper
NM_001394959.1
p.P64P
c.192C>A
1 paper
NM_001394959.1
p.A63S
c.187G>T
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
1 paper
NM_001394959.1
p.Q135R
c.404A>G
1 paper
NM_001394959.1
p.L145F
c.433C>T
1 paper
NM_001394959.1
p.D166N
c.496G>A
1 paper
NM_001394959.1
p.N192_K193del1
c.576_578delTTA
1 paper
NM_001394959.1
p.E226Q
c.676G>C
1 paper
NM_001394959.1
p.M285I
c.855G>T
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