Varaico: Literature-Extracted Genetic Variants

Gene:MDN1
Variant:p.V2462I

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.V2462I
c.7384G>A
Surrounding Variants
1 paper
NM_014611.3
p.D2457N
c.7369G>A
1 paper
NM_014611.3
p.R2420Q
c.7259G>A
2 papers
NM_014611.3
p.T2528A
c.7582A>G
1 paper
NM_014611.3
p.V2536I
c.7606G>A
1 paper
NM_014611.3
p.P2547L
c.7640C>T
1 paper
NM_014611.3
p.A2386V
c.7157C>T
1 paper
NM_014611.3
p.F2567V
c.7699T>G
1 paper
NM_014611.3
p.N2323Y
c.6967A>T
1 paper
NM_014611.3
p.S2300F
c.6899C>T
1 paper
NM_014611.3
p.S2291L
c.6872C>T
1 paper
NM_014611.3
p.L2290F
c.6868C>T
1 paper
NM_014611.3
p.R2287Splc
c.6861-8T>C
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