Varaico: Literature-Extracted Genetic Variants

Gene:MDN1
Variant:p.R3762H

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.R3762H
c.11285G>A
Surrounding Variants
1 paper
NM_014611.3
p.P3749S
c.11245C>T
1 paper
NM_014611.3
p.Q3743K
c.11227C>A
1 paper
NM_014611.3
p.P3722del1
c.11164_11165delTGG
1 paper
NM_014611.3
p.E3700delFs
c.11098delC
1 paper
NM_014611.3
p.E3700fs
c.11098_11099fs
1 paper
NM_014611.3
p.F3698fs
c.11092_11093fs
1 paper
NM_014611.3
p.R3798W
c.11392C>T
1 paper
NM_014611.3
p.M3821T
c.11462T>C
1 paper
NM_014611.3
p.E3832K
c.11494G>A
2 papers
NM_014611.3
p.K3650E
c.10948A>G
1 paper
NM_014611.3
p.I3626L
c.10876A>T
1 paper
NM_014611.3
p.I3626L
c.10876A>C
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