Varaico: Literature-Extracted Genetic Variants

Gene:MDN1
Variant:p.T4534S

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.T4534S
c.13601C>G
Surrounding Variants
1 paper
NM_014611.3
p.T4534S
c.13600A>T
1 paper
NM_014611.3
p.E4524Q
c.13570G>C
1 paper
NM_014611.3
p.Q4520H
c.13560G>T
1 paper
NM_014611.3
p.Q4520H
c.13560G>C
1 paper
NM_014611.3
p.D4503N
c.13507G>A
1 paper
NM_014611.3
p.M4495I
c.13485G>T
1 paper
NM_014611.3
p.M4495I
c.13485G>C
1 paper
NM_014611.3
p.M4495I
c.13485G>A
1 paper
NM_014611.3
p.D4561N
c.13681G>A
2 papers
NM_014611.3
p.V4571M
c.13711G>A
1 paper
NM_014611.3
p.A4595V
c.13784C>T
1 paper
NM_014611.3
p.W4480*
c.13440G>A
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