Varaico: Literature-Extracted Genetic Variants

Gene:MDN1
Variant:p.H2033Q

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.H2033Q
c.6099C>A
Surrounding Variants
1 paper
NM_014611.3
p.H2033Q
c.6099C>G
1 paper
NM_014611.3
p.R2036H
c.6107G>A
1 paper
NM_014611.3
p.G2028V
c.6083G>T
3 papers
NM_014611.3
p.H2043Y
c.6127C>T
1 paper
NM_014611.3
p.P2048A
c.6142C>G
2 papers
NM_014611.3
p.Y2016C
c.6047A>G
2 papers
NM_014611.3
p.R2112Q
c.6335G>A
1 paper
NM_014611.3
p.V2121M
c.6361G>A
1 paper
NM_014611.3
p.D2139N
c.6415G>A
1 paper
NM_014611.3
p.G2162S
c.6484G>A
1 paper
NM_014611.3
p.L2174V
c.6520C>G
1 paper
NM_014611.3
p.E2201Q
c.6601G>C
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