Varaico: Literature-Extracted Genetic Variants

Gene:MARCHF8
Variant:p.S101L

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.S101L
c.302C>T
Surrounding Variants
1 paper
NM_001282866.2
p.S94A
c.280T>G
1 paper
NM_001282866.2
p.S94P
c.280T>C
3 papers
NM_001282866.2
p.H92Y
c.274C>T
1 paper
NM_001282866.2
p.E88fs
c.262_263fs
1 paper
NM_001282866.2
p.T115delFs
c.343delT
1 paper
NM_001282866.2
p.A126T
c.376G>A
1 paper
NM_001282866.2
p.T151A
c.451A>G
1 paper
NM_001282866.2
p.E170K
c.508G>A
1 paper
NM_001282866.2
p.C191S
c.571T>A
1 paper
NM_001282866.2
p.C191S
c.572G>C
1 paper
NM_001282866.2
p.S81Splc
c.242+6A>G
1 paper
NM_001282866.2
p.C80S
c.239G>C
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