Varaico: Literature-Extracted Genetic Variants

Gene:MARCHF7
Variant:p.E320G

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_001282806.2
p.E320G
c.959A>G
Surrounding Variants
1 paper
NM_001282805.2
p.G379S
c.1135G>A
1 paper
NM_001282805.2
p.W385*
c.1154G>A
1 paper
NM_001282805.2
p.W385*
c.1155G>A
1 paper
NM_001282805.2
p.G405R
c.1213G>A
1 paper
NM_001282805.2
p.G405R
c.1213G>C
1 paper
NM_001282805.2
p.R327H
c.980G>A
2 papers
NM_001282805.2
p.A323T
c.967G>A
1 paper
NM_001282805.2
p.H433Q
c.1299C>A
1 paper
NM_001282805.2
p.H433Q
c.1299C>G
1 paper
NM_001282805.2
p.V316I
c.946G>A
1 paper
NM_001282805.2
p.S296fs
c.886_887fs
1 paper
NM_001282805.2
p.S296insFs
c.886dupT
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