Varaico: Literature-Extracted Genetic Variants

Gene:MDN1
Variant:p.S3425C

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.S3425C
c.10273A>T
Surrounding Variants
1 paper
NM_014611.3
p.S3424I
c.10271G>T
3 papers
NM_014611.3
p.H3423Y
c.10267C>T
1 paper
NM_014611.3
p.Q3406*
c.10216C>T
1 paper
NM_014611.3
p.A3396A
c.10188C>T
1 paper
NM_014611.3
p.P3394S
c.10180C>T
1 paper
NM_014611.3
p.L3468V
c.10402C>G
1 paper
NM_014611.3
p.R3495Q
c.10484G>A
1 paper
NM_014611.3
p.D3517E
c.10551C>G
1 paper
NM_014611.3
p.D3517E
c.10551C>A
1 paper
NM_014611.3
p.E3324K
c.9970G>A
1 paper
NM_014611.3
p.D3304N
c.9910G>A
1 paper
NM_014611.3
p.L3303L
c.9909G>C
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