Varaico: Literature-Extracted Genetic Variants

Gene:MDN1
Variant:p.Q229L

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.Q229L
c.686A>T
Surrounding Variants
1 paper
NM_014611.3
p.K233E
c.697A>G
1 paper
NM_014611.3
p.L254L
c.760T>C
1 paper
NM_014611.3
p.S260L
c.779C>T
1 paper
NM_014611.3
p.V274A
c.821T>C
1 paper
NM_014611.3
p.E284D
c.852G>T
1 paper
NM_014611.3
p.E284D
c.852G>C
1 paper
NM_014611.3
p.D213G
c.638A>G
1 paper
NM_014611.3
p.C196S
c.587G>C
1 paper
NM_014611.3
p.C196S
c.586T>A
1 paper
NM_014611.3
p.A192A
c.576T>A
1 paper
NM_014611.3
p.V173G
c.518T>G
2 papers
NM_014611.3
p.F163L
c.489C>G
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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."