Varaico: Literature-Extracted Genetic Variants

Gene:MUL1
Variant:p.R271C

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
1 paper
NM_024544.3
p.R271C
c.811C>T
Surrounding Variants
2 papers
NM_024544.3
p.R271H
c.812G>A
1 paper
NM_024544.3
p.L259V
c.775C>G
1 paper
NM_024544.3
p.R289*
c.865C>T
2 papers
NM_024544.3
p.A244G
c.731C>G
1 paper
NM_024544.3
p.L243P
c.728T>C
1 paper
NM_024544.3
p.S235L
c.704C>T
2 papers
NM_024544.3
p.H319L
c.956A>T
1 paper
NM_024544.3
p.R328H
c.983G>A
1 paper
NM_024544.3
p.P212S
c.634C>T
2 papers
NM_024544.3
p.R209H
c.626G>A
1 paper
NM_024544.3
p.R209C
c.625C>T
1 paper
NM_024544.3
p.E200K
c.598G>A
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