Varaico: Literature-Extracted Genetic Variants

Gene:MARCHF7
Variant:p.R163Q

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_001282805.2
p.R163Q
c.488G>A
Surrounding Variants
1 paper
NM_001282805.2
p.E142G
c.425A>G
1 paper
NM_001282805.2
p.R141K
c.422G>A
1 paper
NM_001282805.2
p.M140I
c.420G>A
1 paper
NM_001282805.2
p.M140I
c.420G>C
1 paper
NM_001282805.2
p.M140I
c.420G>T
1 paper
NM_001282805.2
p.M140_R141delins
c.420_422delinsCAA
1 paper
NM_001282805.2
p.Y172Splc
c.515-14C>T
1 paper
NM_001282805.2
p.M191V
c.571A>G
2 papers
NM_001282805.2
p.T193I
c.578C>T
1 paper
NM_001282805.2
p.S200F
c.599C>T
2 papers
NM_001282805.2
p.T238M
c.713C>T
1 paper
NM_001282805.2
p.S247N
c.740G>A
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