Varaico: Literature-Extracted Genetic Variants

Gene:MDN1
Variant:p.I2267V

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.I2267V
c.6799A>G
Surrounding Variants
1 paper
NM_014611.3
p.P2284S
c.6850C>T
1 paper
NM_014611.3
p.N2248Splc
c.6744-1G>A
1 paper
NM_014611.3
p.R2287Splc
c.6861-8T>C
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.L2290F
c.6868C>T
1 paper
NM_014611.3
p.S2291L
c.6872C>T
1 paper
NM_014611.3
p.S2300F
c.6899C>T
1 paper
NM_014611.3
p.E2223K
c.6667G>A
1 paper
NM_014611.3
p.R2204Q
c.6611G>A
1 paper
NM_014611.3
p.N2323Y
c.6967A>T
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