Varaico: Literature-Extracted Genetic Variants

Gene:MDN1
Variant:p.Y1242C

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
3 papers
NM_014611.3
p.Y1242C
c.3725A>G
Surrounding Variants
1 paper
NM_014611.3
p.R1235Q
c.3704G>A
1 paper
NM_014611.3
p.E1227V
c.3680A>T
1 paper
NM_014611.3
p.L1218L
c.3652T>C
1 paper
NM_014611.3
p.R1188W
c.3562C>T
1 paper
NM_014611.3
p.R1188G
c.3562C>G
1 paper
NM_014611.3
p.T1179fs
c.3535_3536fs
1 paper
NM_014611.3
p.A1163A
c.3489G>A
1 paper
NM_014611.3
p.A1163V
c.3488C>T
1 paper
NM_014611.3
p.Y1146*
c.3438T>G
1 paper
NM_014611.3
p.Y1146*
c.3438T>A
2 papers
NM_014611.3
p.T1124M
c.3371C>T
1 paper
NM_014611.3
p.I1108V
c.3322A>G
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