Varaico: Literature-Extracted Genetic Variants

Gene:MDN1
Variant:p.T1983T

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.T1983T
c.5949C>T
Surrounding Variants
1 paper
NM_014611.3
p.E1984K
c.5950G>A
1 paper
NM_014611.3
p.M1981I
c.5943G>T
1 paper
NM_014611.3
p.M1981I
c.5943G>C
1 paper
NM_014611.3
p.M1981I
c.5943G>A
3 papers
NM_014611.3
p.K1989fs
c.5965_5966fs
1 paper
NM_014611.3
p.K1989delFs
c.5966delT
1 paper
NM_014611.3
p.R1953H
c.5858G>A
1 paper
NM_014611.3
p.D1950G
c.5849A>G
1 paper
NM_014611.3
p.R1949W
c.5845C>T
1 paper
NM_014611.3
p.W1944C
c.5832G>T
1 paper
NM_014611.3
p.W1944C
c.5832G>C
1 paper
NM_014611.3
p.E1930K
c.5788G>A
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