Varaico: Literature-Extracted Genetic Variants

Gene:MUL1
Variant:p.D133V

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
Selected Variant
2 papers
NM_024544.3
p.D133V
c.398A>T
Surrounding Variants
1 paper
NM_024544.3
p.E132K
c.394G>A
1 paper
NM_024544.3
p.V129L
c.385G>T
1 paper
NM_024544.3
p.V129L
c.385G>C
1 paper
NM_024544.3
p.L145R
c.434T>G
1 paper
NM_024544.3
p.D146H
c.436G>C
1 paper
NM_024544.3
p.Q119H
c.357G>T
1 paper
NM_024544.3
p.Q119H
c.357G>C
2 papers
NM_024544.3
p.C113*
c.339C>A
1 paper
NM_024544.3
p.G176S
c.526G>A
1 paper
NM_024544.3
p.G176G
c.528T>A
2 papers
NM_024544.3
p.M188fs
c.562_563fs
1 paper
NM_024544.3
p.E200K
c.598G>A
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