Varaico: Literature-Extracted Genetic Variants

Gene:MDN1
Variant:p.S569T

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.S569T
c.1705T>A
Surrounding Variants
2 papers
NM_014611.3
p.E575_A576Splc
c.1725+1G>A
1 paper
NM_014611.3
p.D562N
c.1684G>A
1 paper
NM_014611.3
p.E575_A576Splc
c.1725+575T>C
1 paper
NM_014611.3
p.L492L
c.1476A>G
1 paper
NM_014611.3
p.A576V
c.1727C>T
1 paper
NM_014611.3
p.A576A
c.1728T>C
1 paper
NM_014611.3
p.M583I
c.1749G>T
1 paper
NM_014611.3
p.M583I
c.1749G>C
1 paper
NM_014611.3
p.M583I
c.1749G>A
1 paper
NM_014611.3
p.D465H
c.1393G>C
1 paper
NM_014611.3
p.H460D
c.1378C>G
1 paper
NM_014611.3
p.P456Q
c.1367C>A
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