Varaico: Literature-Extracted Genetic Variants

Gene:MARCHF8
Variant:p.L5L

MARCHF8

54 papers

RefSeq Summary

MARCH8 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). MARCH enzymes add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling the...

Pfam Domains

RINGvaa 80–126UCSCRING-variant domain
RINGvaa 80–126UCSCRING-variant domain

Gene Aliases

HGNC Name

membrane associated ring-CH-type finger 8

HGNC Previous Symbol

MARCH8

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001282866.2
p.L5L
c.13C>T
Surrounding Variants
1 paper
NM_001282866.2
p.P4L
c.11C>T
1 paper
NM_001282866.2
p.M1K
c.2T>A
1 paper
NM_001282866.2
p.P12T
c.34C>A
1 paper
NM_001282866.2
p.A19T
c.55G>A
1 paper
NM_001282866.2
p.S24T
c.71G>C
1 paper
NM_001282866.2
p.K27R
c.80A>G
1 paper
NM_001282866.2
p.K29R
c.86A>G
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