Varaico: Literature-Extracted Genetic Variants

Gene:MARCHF2
Variant:p.C109S

MARCHF2

21 papers

RefSeq Summary

MARCH2 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 64–109UCSCRING-variant domain

Gene Aliases

HGNC Name

membrane associated ring-CH-type finger 2

HGNC Previous Symbol

MARCH2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001005415.2
p.C109S
c.326G>C
Surrounding Variants
1 paper
NM_001005415.2
p.C109S
c.325T>A
1 paper
NM_001005415.2
p.S99F
c.296C>T
1 paper
NM_001005415.2
p.R120L
c.359G>T
1 paper
NM_001005415.2
p.H90Q
c.270T>A
1 paper
NM_001005415.2
p.H90Q
c.270T>G
1 paper
NM_001005415.2
p.S78C
c.233C>G
2 papers
NM_001005415.2
p.L77V
c.229C>G
1 paper
NM_001005415.2
p.N72S
c.215A>G
3 papers
NM_001005415.2
p.C67S
c.200G>C
3 papers
NM_001005415.2
p.C67S
c.199T>A
3 papers
NM_001005415.2
p.C64S
c.191G>C
3 papers
NM_001005415.2
p.C64S
c.190T>A
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