Varaico: Literature-Extracted Genetic Variants

Gene:MDN1
Variant:p.E2201Q

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.E2201Q
c.6601G>C
Surrounding Variants
1 paper
NM_014611.3
p.R2204Q
c.6611G>A
1 paper
NM_014611.3
p.E2223K
c.6667G>A
1 paper
NM_014611.3
p.M2241I
c.6723G>T
1 paper
NM_014611.3
p.M2241I
c.6723G>C
1 paper
NM_014611.3
p.M2241I
c.6723G>A
1 paper
NM_014611.3
p.N2248Splc
c.6744-1G>A
1 paper
NM_014611.3
p.I2267V
c.6799A>G
1 paper
NM_014611.3
p.P2284S
c.6850C>T
1 paper
NM_014611.3
p.L2174V
c.6520C>G
1 paper
NM_014611.3
p.G2162S
c.6484G>A
1 paper
NM_014611.3
p.D2139N
c.6415G>A
1 paper
NM_014611.3
p.V2121M
c.6361G>A
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