Varaico: Literature-Extracted Genetic Variants

Gene:MDN1
Variant:p.R3926Q

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.R3926Q
c.11777G>A
Surrounding Variants
1 paper
NM_014611.3
p.R3935C
c.11803C>T
1 paper
NM_014611.3
p.E3941Q
c.11821G>C
1 paper
NM_014611.3
p.V3897I
c.11689G>A
1 paper
NM_014611.3
p.Q3888L
c.11663A>T
1 paper
NM_014611.3
p.S3879A
c.11635T>G
1 paper
NM_014611.3
p.E3944V
c.11831A>T
1 paper
NM_014611.3
p.T3863I
c.11588C>T
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.L4001W
c.12002T>G
1 paper
NM_014611.3
p.L4018M
c.12052C>A
1 paper
NM_014611.3
p.E3832K
c.11494G>A
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