Varaico: Literature-Extracted Genetic Variants

Gene:MUL1

MUL1

64 papers

Pfam Domains

GIDEaa 95–256UCSCE3 Ubiquitin ligase
zf-C3HC4_3aa 298–346UCSCZinc finger, C3HC4 type (RING finger)

Gene Aliases

HGNC Name

mitochondrial E3 ubiquitin protein ligase 1

HGNC Previous Symbol

C1orf166

Papers
RefSeq ID
Protein change
DNA change
1–12 of 43 variants
2 papers
NM_024544.3
p.R73W
c.217C>T
2 papers
NM_024544.3
p.Q97E
c.289C>G
2 papers
NM_024544.3
p.C113*
c.339C>A
2 papers
NM_024544.3
p.D133V
c.398A>T
2 papers
NM_024544.3
p.M188fs
c.562_563fs
2 papers
NM_024544.3
p.R209H
c.626G>A
2 papers
NM_024544.3
p.A244G
c.731C>G
2 papers
NM_024544.3
p.R271H
c.812G>A
2 papers
NM_024544.3
p.H319L
c.956A>T
1 paper
NM_024544.3
p.C10Y
c.29G>A
1 paper
NM_024544.3
p.S27S
c.81C>T
1 paper
NM_024544.3
p.R30P
c.89G>C
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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."