Varaico: Literature-Extracted Genetic Variants

Gene:MARCHF11
Variant:p.L317F

MARCHF11

27 papers

RefSeq Summary

MARCH11 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). These enzymes add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling th...

Pfam Domains

RINGvaa 170–215UCSCRING-variant domain

Gene Aliases

HGNC Name

membrane associated ring-CH-type finger 11

HGNC Previous Symbol

MARCH11

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001102562.3
p.L317F
c.951G>T
Surrounding Variants
1 paper
NM_001102562.3
p.L317F
c.951G>C
1 paper
NM_001102562.3
p.R307R
c.921A>G
1 paper
NM_001102562.3
p.R307K
c.920G>A
2 papers
NM_001102562.3
p.E331K
c.991G>A
1 paper
NM_001102562.3
p.S341S
c.1023T>C
1 paper
NM_001102562.3
p.Y371F
c.1112A>T
1 paper
NM_001102562.3
p.R379W
c.1135C>T
1 paper
NM_001102562.3
p.G393V
c.1178G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."