Varaico: Literature-Extracted Genetic Variants

Gene:MARCHF7
Variant:p.R280K

MARCHF7

38 papers

RefSeq Summary

MARCH7 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 552–607UCSCRING-variant domain

Gene Aliases

HGNC Name

membrane associated ring-CH-type finger 7

HGNC Previous Symbols

AXOT; MARCH7

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001282805.2
p.R280K
c.839G>A
Surrounding Variants
1 paper
NM_001282805.2
p.E274G
c.821A>G
1 paper
NM_001282805.2
p.E269*
c.805G>T
1 paper
NM_001282805.2
p.T293fs
c.877_878fs
1 paper
NM_001282805.2
p.S296insFs
c.886dupT
1 paper
NM_001282805.2
p.S296fs
c.886_887fs
1 paper
NM_001282805.2
p.V260I
c.778G>A
1 paper
NM_001282805.2
p.N256S
c.767A>G
1 paper
NM_001282806.2
p.P196T
c.586C>A
1 paper
NM_001282805.2
p.S247N
c.740G>A
1 paper
NM_001282805.2
p.V316I
c.946G>A
2 papers
NM_001282805.2
p.T238M
c.713C>T
2 papers
NM_001282805.2
p.A323T
c.967G>A
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