Varaico: Literature-Extracted Genetic Variants

Gene:MDN1
Variant:p.S4258G

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.S4258G
c.12772A>G
Surrounding Variants
2 papers
NM_014611.3
p.R4266G
c.12796A>G
1 paper
NM_014611.3
p.V4275M
c.12823G>A
1 paper
NM_014611.3
p.F4277S
c.12830T>C
2 papers
NM_014611.3
p.V4283E
c.12848T>A
1 paper
NM_014611.3
p.E4288Q
c.12862G>C
1 paper
NM_014611.3
p.A4399G
c.13196C>G
1 paper
NM_014611.3
p.V4401I
c.13201G>A
1 paper
NM_014611.3
p.Q4407H
c.13221G>T
1 paper
NM_014611.3
p.Q4407H
c.13221G>C
2 papers
NM_014611.3
p.V4466L
c.13396G>T
2 papers
NM_014611.3
p.V4466L
c.13396G>C
1 paper
NM_014611.3
p.W4480*
c.13439G>A
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