Varaico: Literature-Extracted Genetic Variants

Gene:MDN1
Variant:p.R4063H

MDN1

271 papers

Pfam Domains

AAA_5aa 324–459UCSCAAA domain (dynein-related subfamily)
AAA_lid_7aa 480–604UCSCMidasin AAA lid domain
AAA_5aa 672–798UCSCAAA domain (dynein-related subfamily)
AAA_5aa 787–902UCSCAAA domain (dynein-related subfamily)
AAA_lid_5aa 915–1017UCSCMidasin AAA lid domain
AAA_5aa 1079–1215UCSCAAA domain (dynein-related subfamily)

Gene Aliases

HGNC Name

midasin AAA ATPase 1

HGNC Alias Symbols

KIAA0301; Rea1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014611.3
p.R4063H
c.12188G>A
Surrounding Variants
1 paper
NM_014611.3
p.R4063C
c.12187C>T
1 paper
NM_014611.3
p.L4057L
c.12171G>A
4 papers
NM_014611.3
p.A4044S
c.12130G>T
1 paper
NM_014611.3
p.K4109E
c.12325A>G
1 paper
NM_014611.3
p.L4018M
c.12052C>A
1 paper
NM_014611.3
p.L4001W
c.12002T>G
1 paper
NM_014611.3
p.S3987*
c.11960C>G
1 paper
NM_014611.3
p.S3987*
c.11960C>A
1 paper
NM_014611.3
p.R4149C
c.12445C>T
2 papers
NM_014611.3
p.N4152insFs
c.12455dupA
1 paper
NM_014611.3
p.A4177delFs
c.12529delC
1 paper
NM_014611.3
p.E3944V
c.11831A>T
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