Varaico: Literature-Extracted Genetic Variants

Gene:MARCHF10
Variant:p.S206L

MARCHF10

38 papers

RefSeq Summary

MARCH10 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 th...

Pfam Domains

RINGvaa 659–714UCSCRING-variant domain

Gene Aliases

HGNC Name

membrane associated ring-CH-type finger 10

HGNC Previous Symbols

RNF190; MARCH10

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_152598.4
p.S206L
c.617C>T
Surrounding Variants
1 paper
NM_152598.4
p.N190S
c.569A>G
1 paper
NM_152598.4
p.V182L
c.544G>C
1 paper
NM_152598.4
p.V182I
c.544G>A
1 paper
NM_152598.4
p.L280F
c.840G>T
1 paper
NM_152598.4
p.L280F
c.840G>C
1 paper
NM_001288779.2
p.S350F
c.1049C>T
1 paper
NM_001288779.2
p.F357S
c.1070T>C
1 paper
NM_152598.4
p.T364I
c.1091C>T
1 paper
NM_152598.4
p.A369V
c.1106C>T
1 paper
NM_152598.4
p.G370A
c.1109G>C
1 paper
NM_152598.4
p.Q371K
c.1111C>A
1 paper
NM_152598.4
p.Q371H
c.1113A>T
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