Varaico: Literature-Extracted Genetic Variants

Gene:MDN1
Variant:p.E2692fs

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.E2692fs
c.8074_8075fs
Surrounding Variants
1 paper
NM_014611.3
p.E2692delFs
c.8074delC
1 paper
NM_014611.3
p.F2691fs
c.8071_8072fs
1 paper
NM_014611.3
p.F2691S
c.8072T>C
1 paper
NM_014611.3
p.C2694S
c.8080T>A
1 paper
NM_014611.3
p.C2694S
c.8081G>C
1 paper
NM_014611.3
p.P2680L
c.8039C>T
1 paper
NM_014611.3
p.D2711N
c.8131G>A
1 paper
NM_014611.3
p.P2673A
c.8017C>G
1 paper
NM_014611.3
p.R2643W
c.7927C>T
1 paper
NM_014611.3
p.K2633Splc
c.7898+10A>G
1 paper
NM_014611.3
p.L2627S
c.7880T>C
1 paper
NM_014611.3
p.R2598*
c.7792C>T
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